S70F (p.Ser70Phe) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S70F (p.Ser70Phe) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S70F (p.Ser70Phe) variant details
- p.Ser70Phe
- cosmic curated COSV59445
- ESP rs373587868
- ExAC rs373587868
- TOPMed rs373587868
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.21
- MetaLR 0.21
- MetaSVM -0.85
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available