G96S (p.Gly96Ser) variant of XRCC3 (DNA repair protein XRCC3)
G96S (p.Gly96Ser) 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 0.72 / 1. The record also includes population frequency data and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- cosmic curated COSV10590
- TOPMed rs1014084666
- gnomAD rs1014084666
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.68
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available