A60V (p.Ala60Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A60V (p.Ala60Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- TOPMed rs1436118132
- gnomAD rs1436118132
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.89
- CADD 7.31
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available