A21V (p.Ala21Val) variant of UNG (Uracil-DNA glycosylase)
A21V (p.Ala21Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs1268732277
- ClinGen CA386468699
- ClinVar RCV001870777
- TOPMed rs1268732277
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.05
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available