V55I (p.Val55Ile) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
V55I (p.Val55Ile) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- ExAC rs201563351
- gnomAD rs201563351
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.27
- MetaLR 0.33
- MetaSVM -0.66
- CADD 20.20
- PolyPhen-2 0.68
- SIFT 0.03
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available