L10S (p.Leu10Ser) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L10S (p.Leu10Ser) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- ExAC rs759026515
- gnomAD rs759026515
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.25
- MetaLR 0.39
- MetaSVM -0.64
- CADD 19.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available