F27L (p.Phe27Leu) variant of RAD50 (DNA repair protein RAD50)
F27L (p.Phe27Leu) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
F27L (p.Phe27Leu) variant details
- p.Phe27Leu
- rs868228536
- ClinGen CA360951474
- ClinVar RCV001322743
- Ensembl rs868228536
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)