S257P (p.Ser257Pro) variant of RAF1 (P04049)
S257P (p.Ser257Pro) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S257P (p.Ser257Pro) variant details
- p.Ser257Pro
- rs727505017
- ClinGen CA184835
- ClinVar RCV000156441
- ClinVar RCV000159073
- Likely pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.39
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.28
- ClinVar: Likely pathogenic (RASopathy)
- EBI: Pathogenic (in NS5 and LPRD2)
- UniProt: Pathogenic (in NS5 and LPRD2)
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)