A57D (p.Ala57Asp) variant of COL5A2 (Collagen alpha-2(V) chain)
A57D (p.Ala57Asp) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A57D (p.Ala57Asp) variant details
- p.Ala57Asp
- ExAC rs757107924
- gnomAD rs757107924
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.17
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available