P261L (p.Pro261Leu) variant of RAF1 (P04049)
P261L (p.Pro261Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1NN; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P261L (p.Pro261Leu) variant details
- p.Pro261Leu
- rs397516828
- ClinGen CA267618
- cosmic curated COSV52583
- ClinVar RCV000106325
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Dilated cardiomyopathy 1NN; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 1.00
- MetaLR 0.67
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Dilated cardiomyopathy 1NN; not provid)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. (PMID 17603483)
- Cited in: Noonan Syndrome. (PMID 20301303)