P22L (p.Pro22Leu) variant of UNG (Uracil-DNA glycosylase)
P22L (p.Pro22Leu) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs373668102
- ClinGen CA6772441
- ClinVar RCV001109467
- ESP rs373668102
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.08
- CADD 8.10
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available