S12F (p.Ser12Phe) variant of UNG (Uracil-DNA glycosylase)
S12F (p.Ser12Phe) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- gnomAD rs1448832810
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.22
- CADD 25.20
- PolyPhen-2 0.87
- SIFT 0.01
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available