V53M (p.Val53Met) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
V53M (p.Val53Met) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- ExAC rs752397753
- TOPMed rs752397753
- gnomAD rs752397753
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.51
- MetaLR 0.64
- MetaSVM 0.23
- CADD 23.80
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available