A12V (p.Ala12Val) variant of SLC35A2 (UDP-galactose translocator)
A12V (p.Ala12Val) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD rs1557044100
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.10
- CADD 22.40
- PolyPhen-2 0.75
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available