S29F (p.Ser29Phe) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S29F (p.Ser29Phe) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data.
S29F (p.Ser29Phe) variant details
- p.Ser29Phe
- ExAC rs762515039
- gnomAD rs762515039
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)