S2P (p.Ser2Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S2P (p.Ser2Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- TOPMed rs1454696412
- gnomAD rs1454696412
- Missense
- Variant Prioritization Score for Impact Estimate 0.087
- REVEL 0.02
- MetaLR 0.11
- MetaSVM -1.02
- CADD 7.32
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available