A20V (p.Ala20Val) variant of SLC35A2 (UDP-galactose translocator)
A20V (p.Ala20Val) in SLC35A2 (UDP-galactose translocator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs2147500403
- ClinGen CA412898802
- cosmic curated COSV55946
- ClinVar RCV001568089
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.01
- CADD 10.10
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00027)
- Structural context available