R108C (p.Arg108Cys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R108C (p.Arg108Cys) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
R108C (p.Arg108Cys) variant details
- p.Arg108Cys
- rs755047832
- ClinGen CA2381578
- NCI-TCGA Cosmic COSV6039
- ClinVar RCV003091452
- Uncertain significance
- not provided
- Missense
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)