S259F (p.Ser259Phe) variant of RAF1 (P04049)
S259F (p.Ser259Phe) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
S259F (p.Ser259Phe) variant details
- p.Ser259Phe
- rs397516827
- ClinGen CA339739
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52574
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; not provided; RASop)
- 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: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. (PMID 17603482)