P261R (p.Pro261Arg) variant of RAF1 (P04049)
P261R (p.Pro261Arg) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome and Noonan-related syndrome; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P261R (p.Pro261Arg) variant details
- p.Pro261Arg
- rs397516828
- ClinGen CA134753
- NCI-TCGA Cosmic COSV5257
- cosmic curated COSV52574
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; RASopathy
- 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 (Noonan syndrome and Noonan-related syndrome; not provided; RASop)
- EBI: Pathogenic (in NS5)
- UniProt: Pathogenic (in NS5)
- Structural context available
- Cited in: A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant. (PMID 26266034)
- Cited in: Noonan Syndrome. (PMID 20301303)