Table 2.
Variant | SIFT prediction | SAPRED prediction | Polyphen Prediction | Grantham Score | Clinical Correlation | Zygosity |
---|---|---|---|---|---|---|
c.280C>T (p.Leu94Phe) | 0.13 (tolerated) | 0.19 (neutral) | 1.062 (benign) | 22 | PA (0) POF (1) | Het |
c.1021G>A (p.Ala341Thr) | 0.54 (tolerated) | 0.46 (neutral) | 0.773 (benign) | 58 | PA (0) POF (1) | Het |
c.1156C>T (p.Leu386Phe) | 0.08 (tolerated) | 0.24 (neutral) | 1.559 (possibly damaging) | 22 | PA (0) POF (1) | Het |