S259C (p.Ser259Cys) variant of RAF1 (P04049)
S259C (p.Ser259Cys) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; RASopathy; Noonan syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
S259C (p.Ser259Cys) variant details
- p.Ser259Cys
- rs397516827
- ClinGen CA297115
- cosmic curated COSV52575
- ClinVar RCV000159075
- Pathogenic/Likely pathogenic
- not provided; RASopathy; Noonan syndrome 5
- 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/Likely pathogenic (not provided; RASopathy; Noonan syndrome 5)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)