P37L (p.Pro37Leu) variant of UNG (Uracil-DNA glycosylase)
P37L (p.Pro37Leu) 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 0.25 / 1. The record also includes population frequency data and structural context.
P37L (p.Pro37Leu) variant details
- p.Pro37Leu
- TOPMed rs1205349419
- gnomAD rs1205349419
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.96
- CADD 15.50
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available