S7L (p.Ser7Leu) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S7L (p.Ser7Leu) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- gnomAD 4-69096540-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -0.99
- CADD 13.60
- PolyPhen-2 0.69
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available