H39R (p.His39Arg) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
H39R (p.His39Arg) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
H39R (p.His39Arg) variant details
- p.His39Arg
- gnomAD 2-233760403-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.75
- CADD 24.00
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available