A72D (p.Ala72Asp) variant of COL7A1 (Collagen alpha-1(VII) chain)
A72D (p.Ala72Asp) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
A72D (p.Ala72Asp) variant details
- p.Ala72Asp
- rs138319290
- ClinGen CA2381621
- ClinVar RCV001280170
- ClinVar RCV003738036
- Benign
- not provided
- Missense
- CADD 24.50
- PolyPhen-2 0.70
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00027)