S76F (p.Ser76Phe) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S76F (p.Ser76Phe) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
S76F (p.Ser76Phe) variant details
- p.Ser76Phe
- 1000Genomes rs372326256
- ESP rs372326256
- ExAC rs372326256
- TOPMed rs372326256
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- CADD 26.10
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)