L27P (p.Leu27Pro) variant of UGT2B7 (UDP-glucuronosyltransferase 2B7)
L27P (p.Leu27Pro) in UGT2B7 (UDP-glucuronosyltransferase 2B7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- TOPMed rs899572997
- gnomAD rs899572997
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.62
- MetaLR 0.63
- MetaSVM 0.31
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available