S37C (p.Ser37Cys) variant of COL17A1 (Collagen alpha-1(XVII) chain)
S37C (p.Ser37Cys) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- TOPMed rs1378114551
- gnomAD rs1378114551
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 24.30
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)