S259Y (p.Ser259Tyr) variant of RAF1 (P04049)
S259Y (p.Ser259Tyr) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of 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.
S259Y (p.Ser259Tyr) variant details
- p.Ser259Tyr
- rs397516827
- ClinGen CA134750
- ClinVar RCV000037702
- ClinVar RCV000987117
- Pathogenic
- 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 (RASopathy)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)