P261S (p.Pro261Ser) variant of RAF1 (P04049)
P261S (p.Pro261Ser) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P261S (p.Pro261Ser) variant details
- p.Pro261Ser
- rs121434594
- ClinGen CA257062
- cosmic curated COSV52578
- ClinVar RCV000014987
- Pathogenic
- Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- AlphaMissense 0.99
- MetaLR 0.67
- MetaSVM 0.38
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Noonan syndrome)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Germline gain-of-function mutations in RAF1 cause Noonan syndrome. (PMID 17603482)
- Cited in: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (PMID 17603483)