S259P (p.Ser259Pro) variant of RAF1 (P04049)
S259P (p.Ser259Pro) 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; Noonan syndrome; Noonan syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
S259P (p.Ser259Pro) variant details
- p.Ser259Pro
- rs3730271
- ClinGen CA10576602
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52577
- Pathogenic/Likely pathogenic
- RASopathy; Noonan syndrome; Noonan syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- AlphaMissense 0.99
- MetaLR 0.64
- MetaSVM 0.40
- PolyPhen-2 0.20
- SIFT 0.00
- EVE 0.34
- ClinVar: Pathogenic/Likely pathogenic (RASopathy; Noonan syndrome; 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)