R78H (p.Arg78His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R78H (p.Arg78His) 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.
R78H (p.Arg78His) variant details
- p.Arg78His
- rs866241910
- NCI-TCGA Cosmic COSV5255
- gnomAD rs866241910
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 25.40
- PolyPhen-2 0.31
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)