F11S (p.Phe11Ser) variant of UNG (Uracil-DNA glycosylase)
F11S (p.Phe11Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- rs747684225
- ClinGen CA6772435
- ClinVar RCV001218242
- ClinVar RCV004034062
- Uncertain significance
- not specified; Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.48
- CADD 29.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available