S12T (p.Ser12Thr) variant of UNG (Uracil-DNA glycosylase)
S12T (p.Ser12Thr) 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 not specified; Hyper-IgM syndrome type 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S12T (p.Ser12Thr) variant details
- p.Ser12Thr
- rs769496984
- ClinGen CA386468587
- ClinVar RCV001883111
- ClinVar RCV006327316
- Uncertain significance
- not specified; Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- CADD 18.00
- PolyPhen-2 0.42
- SIFT 0.13
- ClinVar: Uncertain significance (not specified; Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available