G48D (p.Gly48Asp) variant of XRCC2 (DNA repair protein XRCC2)
G48D (p.Gly48Asp) 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 0.87 / 1. The record also includes structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- rs2098027535
- ClinGen CA370199329
- ClinVar RCV001236413
- Ensembl rs2098027535
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available