S20P (p.Ser20Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
S20P (p.Ser20Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S20P (p.Ser20Pro) variant details
- p.Ser20Pro
- Ensembl rs2109882855
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.02
- MetaLR 0.11
- MetaSVM -1.03
- CADD 10.70
- SIFT 0.26
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available