R9L (p.Arg9Leu) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R9L (p.Arg9Leu) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- ExAC rs761736540
- gnomAD rs761736540
- Missense
- Variant Prioritization Score for Impact Estimate 0.0497
- REVEL 0.03
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available