G101D (p.Gly101Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G101D (p.Gly101Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
G101D (p.Gly101Asp) variant details
- p.Gly101Asp
- TOPMed rs973642161
- gnomAD rs973642161
- Uncertain significance
- Missense
- CADD 10.40
- PolyPhen-2 0.20
- SIFT 0.64
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)