K40R (p.Lys40Arg) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
K40R (p.Lys40Arg) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- gnomAD 4-69096639-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.95
- CADD 15.00
- PolyPhen-2 0.42
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available