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. 2025 Aug 25;6:e72133. doi: 10.2196/72133

Table 2. Prediction of deleterious nonsynonymous single-nucleotide polymorphisms of ADAM17a gene using PROVEANb, Mutation Assessor, and SNAP2c.

Variant ID Amino acid mutation PROVEAN Mutation Assessor SNAP2
Score Prediction Score Prediction Score Prediction
rs1394373815 P 556 L −8.978 Deleterious 4.095 High 37 Effect
rs542316178 G 550 D −6.068 Deleterious 4.83 High 76 Effect
rs777478676 V 483 A −3.496 Deleterious 4.215 High 43 Effect
rs951262662 G 479 E −7.119 Deleterious 4.78 High 89 Effect
rs1192348585 G 349 E −7.269 Deleterious 3.83 High 83 Effect
rs1157021454 T 339 P −5.606 Deleterious 3.735 High 69 Effect
rs768704961 D 232 E −3.795 Deleterious 3.79 High 84 Effect
a

ADAM: A disintegrin and metalloprotease.

b

PROVEAN: Protein Variation Effect Analyzer.

c

SNAP2: Screening for Non-Acceptable Polymorphisms 2.