R41L (p.Arg41Leu) variant of RAF1 (P04049)
R41L (p.Arg41Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs145611571
- ClinGen CA2259834
- ClinVar RCV000406219
- ClinVar RCV000530532
- Conflicting interpretations
- not provided; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.54
- MetaLR 0.32
- MetaSVM -0.47
- PolyPhen-2 0.90
- SIFT 0.04
- MutPred 0.36
- ClinVar: Conflicting classifications of pathogenicity (not provided; RASopathy; Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -1.03