G169R (p.Gly169Arg) variant of RAF1 (P04049)
G169R (p.Gly169Arg) 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 5; Dilated cardiomyopathy 1NN; LEOPARD syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
G169R (p.Gly169Arg) variant details
- p.Gly169Arg
- rs886039607
- ClinGen CA10588350
- ClinVar RCV000255759
- ClinVar RCV000576681
- Pathogenic/Likely pathogenic
- Noonan syndrome 5; Dilated cardiomyopathy 1NN; LEOPARD syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 5; Dilated cardiomyopathy 1NN; LEOPARD syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)