Table 1.
Hemizygous deleterious CFAP47 variants identified in Chinese MMAF-affected men
| CFAP47 variant | M1 | M2 | M3 |
|---|---|---|---|
| cDNA alteration | c.7154T>A | c.5224A>G | c.8668C>A |
| Variant allele | hemizygous | hemizygous | hemizygous |
| Protein alteration | p.Ile2385Asn | p.Ser1742Gly | p.Pro2890Thr |
| Variant type | missense | missense | missense |
| Allele frequency in human population | |||
| 1000 Genomes Project | 0 | 0 | 0 |
| East Asians in gnomAD | 0 | 0 | 0 |
| All individuals in gnomAD | 0 | 0 | 0 |
| Function prediction | |||
| SIFT | damaging | damaging | damaging |
| PolyPhen-2 | damaging | N/A | damaging |
| M-CAP | N/A | damaging | damaging |
| CADD | 8.6 | 23.4 | 23.1 |
NCBI reference sequence number of CFAP47 is GenBank: NM_001304548.2. Variants with CADD values greater than 4 are considered to be deleterious. N/A, not available.