R9H (p.Arg9His) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
R9H (p.Arg9His) in UGT1A1 (UDP-glucuronosyltransferase 1A1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs761736540
- NCI-TCGA Cosmic COSV5938
- cosmic curated COSV59384
- ExAC rs761736540
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0475
- REVEL 0.03
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.66
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available