L7P (p.Leu7Pro) variant of RAD51 (Q06609)
L7P (p.Leu7Pro) 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 0.34 / 1. The record also includes population frequency data and structural context.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- rs1894810858
- ClinGen CA391744099
- ClinVar RCV003707096
- gnomAD rs1894810858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.15
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available