A18V (p.Ala18Val) variant of COL7A1 (Collagen alpha-1(VII) chain)
A18V (p.Ala18Val) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions and population frequency data.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- 1000Genomes rs563053737
- TOPMed rs563053737
- gnomAD rs563053737
- Likely benign
- Missense
- CADD 18.80
- PolyPhen-2 0.02
- SIFT 0.26
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)