F251S (p.Phe251Ser) variant of UNG (Uracil-DNA glycosylase)
F251S (p.Phe251Ser) in UNG (Uracil-DNA glycosylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F251S (p.Phe251Ser) variant details
- p.Phe251Ser
- rs104894380
- ClinGen CA122119
- ClinVar RCV000013086
- UniProt VAR 017094
- Pathogenic
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.74
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hyper-IgM syndrome type 5)
- EBI: Pathogenic (in HIGM5)
- UniProt: Pathogenic (in HIGM5)
- Population evidence available
- Structural context available
- Cited in: Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. (PMID 12958596)
- Cited in: B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated… (PMID 15967827)