K57R (p.Lys57Arg) variant of RAD51 (Q06609)
K57R (p.Lys57Arg) 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.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- rs1448625265
- ClinGen CA391746135
- ClinVar RCV003548122
- gnomAD rs1448625265
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.16
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available