A60P (p.Ala60Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
A60P (p.Ala60Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A60P (p.Ala60Pro) variant details
- p.Ala60Pro
- gnomAD 4-69096698-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.95
- CADD 2.06
- PolyPhen-2 0.04
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available