A121V (p.Ala121Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A121V (p.Ala121Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
A121V (p.Ala121Val) variant details
- p.Ala121Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 28.00
- PolyPhen-2 0.99
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)