I42V (p.Ile42Val) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
I42V (p.Ile42Val) in UGT2B7 (UDP-glucuronosyltransferase 2B7) 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 0.16 / 1. The record also includes population frequency data and structural context.
I42V (p.Ile42Val) variant details
- p.Ile42Val
- rs569411321
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59441
- 1000Genomes rs569411321
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.93
- CADD 0.69
- PolyPhen-2 0.07
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available