A106V (p.Ala106Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A106V (p.Ala106Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- rs767643638
- ClinGen CA2381579
- ClinVar RCV001280167
- ClinVar RCV002537880
- Likely benign
- not provided
- Missense
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00083)