I11F (p.Ile11Phe) variant of RAF1 (P04049)
I11F (p.Ile11Phe) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I11F (p.Ile11Phe) variant details
- p.Ile11Phe
- rs779001930
- ClinGen CA351485223
- ClinVar RCV000761113
- ClinVar RCV001207035
- Uncertain significance
- LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.59
- MutPred 0.17
- ClinVar: Uncertain significance (LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1N)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.63
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)