R27L (p.Arg27Leu) variant of RAD51 (Q06609)
R27L (p.Arg27Leu) in RAD51 (Q06609) 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 0.46 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- rs778132081
- ClinGen CA391744560
- ClinVar RCV001822404
- ExAC rs778132081
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.26
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available