K18R (p.Lys18Arg) variant of RAF1 (P04049)
K18R (p.Lys18Arg) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K18R (p.Lys18Arg) variant details
- p.Lys18Arg
- rs150944421
- ClinGen CA2259847
- ClinVar RCV001235542
- ClinVar RCV002348793
- Conflicting interpretations
- RASopathy; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.23
- MetaLR 0.29
- MetaSVM -0.49
- PolyPhen-2 0.85
- SIFT 0.01
- MutPred 0.30
- ClinVar: Conflicting classifications of pathogenicity (RASopathy; Cardiovascular phenotype; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.732