A57V (p.Ala57Val) variant of SLC35A2 (UDP-galactose translocator)
A57V (p.Ala57Val) in SLC35A2 (UDP-galactose translocator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- cosmic curated COSV99900
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.07
- CADD 19.50
- PolyPhen-2 0.06
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 0.00045)
- Structural context available