G101V (p.Gly101Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
G101V (p.Gly101Val) 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 Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullou. The record also includes variant effect predictions, population frequency data, and published literature.
G101V (p.Gly101Val) variant details
- p.Gly101Val
- rs973642161
- ClinGen CA73994060
- ClinVar RCV001280168
- ClinVar RCV002499484
- Uncertain significance
- Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullou
- Missense
- CADD 12.30
- PolyPhen-2 0.26
- SIFT 0.35
- ClinVar: Uncertain significance (Dominant dystrophic epidermolysis bullosa with absence of skin;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Dystrophic Epidermolysis Bullosa. (PMID 20301481)