A21T (p.Ala21Thr) variant of UNG (Uracil-DNA glycosylase)
A21T (p.Ala21Thr) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- rs1435043915
- ClinGen CA386468690
- ClinVar RCV000797528
- ClinVar RCV004027600
- Uncertain significance
- Hyper-IgM syndrome type 5; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.046
- REVEL 0.03
- CADD 0.43
- PolyPhen-2 0.00
- SIFT 0.52
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available