L603P (p.Leu603Pro) variant of RAF1 (P04049)
L603P (p.Leu603Pro) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dilated cardiomyopathy 1NN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
L603P (p.Leu603Pro) variant details
- p.Leu603Pro
- rs587777586
- ClinGen CA167980
- ClinVar RCV000131334
- UniProt VAR 071847
- Pathogenic
- Dilated cardiomyopathy 1NN
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.77
- ClinVar: Pathogenic (Dilated cardiomyopathy 1NN)
- EBI: Pathogenic (in CMD1NN)
- UniProt: Pathogenic (in CMD1NN)
- Structural context available
- Cited in: RAF1 mutations in childhood-onset dilated cardiomyopathy. (PMID 24777450)