V55A (p.Val55Ala) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
V55A (p.Val55Ala) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- gnomAD 4-69096684-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.27
- MetaLR 0.28
- MetaSVM -0.74
- CADD 17.20
- PolyPhen-2 0.14
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available