S78C (p.Ser78Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S78C (p.Ser78Cys) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data.
S78C (p.Ser78Cys) variant details
- p.Ser78Cys
- 1000Genomes rs143483397
- ESP rs143483397
- ExAC rs143483397
- TOPMed rs143483397
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)