G53E (p.Gly53Glu) variant of XRCC2 (DNA repair protein XRCC2)
G53E (p.Gly53Glu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs1163807963
- ClinGen CA370199302
- ClinVar RCV002653459
- gnomAD rs1163807963
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- AlphaMissense 0.65
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available