P26S (p.Pro26Ser) variant of UNG (Uracil-DNA glycosylase)
P26S (p.Pro26Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs1321029062
- ClinGen CA386468752
- ClinVar RCV001926775
- gnomAD rs1321029062
- Uncertain significance
- Hyper-IgM syndrome type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available