N36S (p.Asn36Ser) variant of RAD51 (Q06609)
N36S (p.Asn36Ser) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N36S (p.Asn36Ser) variant details
- p.Asn36Ser
- TOPMed rs1894957326
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.10
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available