G93D (p.Gly93Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
G93D (p.Gly93Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
G93D (p.Gly93Asp) variant details
- p.Gly93Asp
- rs151246821
- ClinGen CA2381587
- ClinVar RCV003085798
- ESP rs151246821
- Likely benign
- not provided
- Missense
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.0002)