A36V (p.Ala36Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A36V (p.Ala36Val) 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.
A36V (p.Ala36Val) variant details
- p.Ala36Val
- rs1490442225
- NCI-TCGA Cosmic COSV9917
- gnomAD rs1490442225
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.21
- MetaLR 0.82
- MetaSVM 0.82
- PolyPhen-2 0.94
- SIFT 0.02
- MutPred 0.45
- UniProt: Variant assessed as somatic; moderate impact.