V52I (p.Val52Ile) variant of RAD51 (Q06609)
V52I (p.Val52Ile) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, 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 0.42 / 1. The record also includes population frequency data and structural context.
V52I (p.Val52Ile) variant details
- p.Val52Ile
- ExAC rs747697371
- TOPMed rs747697371
- gnomAD rs747697371
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available