H51R (p.His51Arg) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
H51R (p.His51Arg) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- gnomAD 4-69096672-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.41
- MetaLR 0.49
- MetaSVM -0.42
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available