V21M (p.Val21Met) variant of RAF1 (P04049)
V21M (p.Val21Met) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- rs752484962
- ClinGen CA2259844
- ClinVar RCV001257447
- ClinVar RCV002252347
- Likely benign
- RASopathy; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.10
- MetaLR 0.28
- MetaSVM -0.67
- PolyPhen-2 0.18
- SIFT 0.01
- MutPred 0.27
- ClinVar: Likely benign (RASopathy; See cases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.709
- Cited in: Noonan Syndrome with Multiple Lentigines. (PMID 20301557)
- Cited in: Noonan Syndrome. (PMID 20301303)