Q13P (p.Gln13Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
Q13P (p.Gln13Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q13P (p.Gln13Pro) variant details
- p.Gln13Pro
- gnomAD 4-69096558-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.19
- MetaLR 0.36
- MetaSVM -0.78
- CADD 19.40
- PolyPhen-2 0.90
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available