G8V (p.Gly8Val) variant of UGT1A1 (UDP-glucuronosyltransferase 1A1)
G8V (p.Gly8Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
G8V (p.Gly8Val) variant details
- p.Gly8Val
- rs768521253
- ExAC rs768521253
- gnomAD rs768521253
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.09
- CADD 0.62
- PolyPhen-2 0.01
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available