E50D (p.Glu50Asp) variant of XRCC2 (DNA repair protein XRCC2)
E50D (p.Glu50Asp) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E50D (p.Glu50Asp) variant details
- p.Glu50Asp
- ExAC rs746751990
- TOPMed rs746751990
- gnomAD rs746751990
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.17
- MetaLR 0.19
- MetaSVM -0.89
- CADD 23.80
- PolyPhen-2 0.90
- SIFT 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available