K40Q (p.Lys40Gln) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
K40Q (p.Lys40Gln) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- gnomAD 4-69096638-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.19
- MetaLR 0.28
- MetaSVM -0.85
- CADD 21.90
- PolyPhen-2 0.95
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available