F46L (p.Phe46Leu) variant of RAD51 (Q06609)
F46L (p.Phe46Leu) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- rs1298742495
- ClinGen CA391745680
- ClinVar RCV002396632
- gnomAD rs1298742495
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.27
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)