M23V (p.Met23Val) variant of BRAF (P15056)
M23V (p.Met23Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiofaciocutaneous syndrome 1; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M23V (p.Met23Val) variant details
- p.Met23Val
- rs1818671266
- ClinGen CA369590163
- ClinVar RCV001196110
- ClinVar RCV002560215
- Uncertain significance
- Cardiofaciocutaneous syndrome 1; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- MetaLR 0.22
- MetaSVM -0.90
- CADD 21.50
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiofaciocutaneous syndrome 1; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0292
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)