F475L (p.Phe475Leu) variant of RAF1 (P04049)
F475L (p.Phe475Leu) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dilated cardiomyopathy 1NN; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
F475L (p.Phe475Leu) variant details
- p.Phe475Leu
- rs730881003
- ClinGen CA297130
- cosmic curated COSV10803
- ClinVar RCV000159085
- Pathogenic/Likely pathogenic
- Dilated cardiomyopathy 1NN; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.34
- PolyPhen-2 0.84
- SIFT 0.00
- EVE 0.51
- ClinVar: Pathogenic/Likely pathogenic (Dilated cardiomyopathy 1NN; not provided; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)