A2V (p.Ala2Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
A2V (p.Ala2Val) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1437444805
- gnomAD rs1437444805
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.04
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available