E26G (p.Glu26Gly) variant of XRCC3 (DNA repair protein XRCC3)
E26G (p.Glu26Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- gnomAD rs1043719343
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.30
- CADD 27.80
- PolyPhen-2 0.73
- 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 5e-05)
- Structural context available