V29A (p.Val29Ala) variant of COL7A1 (Collagen alpha-1(VII) chain)
V29A (p.Val29Ala) 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.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- NCI-TCGA TCGA novel
- Ensembl rs2045939582
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 23.10
- PolyPhen-2 0.94
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)