A71V (p.Ala71Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A71V (p.Ala71Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A71V (p.Ala71Val) variant details
- p.Ala71Val
- gnomAD 4-69096732-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- MetaLR 0.26
- MetaSVM -0.82
- CADD 5.20
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available