S79G (p.Ser79Gly) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S79G (p.Ser79Gly) in COL17A1 (Collagen alpha-1(XVII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
S79G (p.Ser79Gly) variant details
- p.Ser79Gly
- NCI-TCGA Cosmic COSV6222
- cosmic curated COSV62227
- TOPMed rs2086710860
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)