R59H (p.Arg59His) variant of RAF1 (P04049)
R59H (p.Arg59His) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Noonan syndrome; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R59H (p.Arg59His) variant details
- p.Arg59His
- rs1559447623
- ClinGen CA351484917
- NCI-TCGA Cosmic COSV9931
- cosmic curated COSV99312
- Uncertain significance
- not provided; Noonan syndrome; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- AlphaMissense 0.91
- MetaLR 0.38
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (not provided; Noonan syndrome; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.717
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)