S67N (p.Ser67Asn) variant of RAD51 (Q06609)
S67N (p.Ser67Asn) in RAD51 (Q06609) 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 0.55 / 1. The record also includes population frequency data and structural context.
S67N (p.Ser67Asn) variant details
- p.Ser67Asn
- rs1163399253
- ClinGen CA391746494
- ClinVar RCV002265191
- TOPMed rs1163399253
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.43
- AlphaMissense 0.96
- MetaLR 0.42
- MetaSVM 0.03
- CADD 25.80
- PolyPhen-2 0.76
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available