P26L (p.Pro26Leu) variant of UNG (Uracil-DNA glycosylase)
P26L (p.Pro26Leu) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- ExAC rs775369845
- gnomAD rs775369845
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.05
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -0.92
- CADD 19.30
- PolyPhen-2 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available