R256G (p.Arg256Gly) variant of RAF1 (P04049)
R256G (p.Arg256Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
R256G (p.Arg256Gly) variant details
- p.Arg256Gly
- rs397516825
- ClinGen CA261620
- ClinVar RCV000037699
- ClinVar RCV000550843
- Pathogenic/Likely pathogenic
- not provided; RASopathy; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- AlphaMissense 0.97
- MetaLR 0.61
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy; Noonan syndrome)
- 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)