V12I (p.Val12Ile) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
V12I (p.Val12Ile) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- gnomAD 2-233760321-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.22
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available