R108H (p.Arg108His) variant of COL7A1 (Collagen alpha-1(VII) chain)
R108H (p.Arg108His) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
R108H (p.Arg108His) variant details
- p.Arg108His
- rs752101927
- NCI-TCGA Cosmic COSV6039
- ExAC rs752101927
- TOPMed rs752101927
- Uncertain significance
- not specified
- Missense
- CADD 27.50
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available