R256S (p.Arg256Ser) variant of RAF1 (P04049)
R256S (p.Arg256Ser) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes published literature and structural context.
R256S (p.Arg256Ser) variant details
- p.Arg256Ser
- rs397516826
- ClinGen CA261623
- ClinVar RCV000037700
- ClinVar RCV001852785
- Pathogenic/Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.99
- MetaLR 0.55
- MetaSVM -0.01
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Noonan syndrome)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (PMID 17603483)
- Cited in: Noonan Syndrome. (PMID 20301303)