N67H (p.Asn67His) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
N67H (p.Asn67His) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. 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.
N67H (p.Asn67His) variant details
- p.Asn67His
- ExAC rs748435925
- gnomAD rs748435925
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.15
- MetaLR 0.25
- MetaSVM -0.86
- CADD 13.70
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available