A18E (p.Ala18Glu) variant of COL7A1 (Collagen alpha-1(VII) chain)
A18E (p.Ala18Glu) 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.
A18E (p.Ala18Glu) variant details
- p.Ala18Glu
- rs563053737
- ClinGen CA73995077
- ClinVar RCV002622454
- 1000Genomes rs563053737
- Likely benign
- not provided
- Missense
- CADD 22.40
- PolyPhen-2 0.49
- SIFT 0.07
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.005)