R40C (p.Arg40Cys) variant of RAF1 (P04049)
R40C (p.Arg40Cys) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- rs772390935
- ClinGen CA2259835
- NCI-TCGA Cosmic COSV5258
- cosmic curated COSV52583
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.32
- MetaLR 0.47
- MetaSVM -0.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.41
- ClinVar: Likely benign (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.136