R28K (p.Arg28Lys) variant of COL7A1 (Collagen alpha-1(VII) chain)
R28K (p.Arg28Lys) 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.
R28K (p.Arg28Lys) variant details
- p.Arg28Lys
- rs1334243008
- gnomAD rs1334243008
- Variant assessed as somatic; moderate impact.
- Missense
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)