V12V (p.Val12Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
V12V (p.Val12Val) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs760176104
- gnomAD 2-233760323-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 3.14
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available