E26V (p.Glu26Val) variant of XRCC3 (DNA repair protein XRCC3)
E26V (p.Glu26Val) in XRCC3 (DNA repair protein XRCC3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- rs1043719343
- ClinGen CA267248290
- ClinVar RCV004485681
- gnomAD rs1043719343
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.35
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available