I62T (p.Ile62Thr) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
I62T (p.Ile62Thr) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- gnomAD 4-69096705-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -1.03
- CADD 13.30
- PolyPhen-2 0.18
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available