R40H (p.Arg40His) variant of RAF1 (P04049)
R40H (p.Arg40His) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- rs192632236
- ClinGen CA201617
- ClinVar RCV000127704
- ClinVar RCV000175738
- Benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.22
- MetaLR 0.22
- MetaSVM -0.67
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Benign (RASopathy)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.136
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)