L18V (p.Leu18Val) variant of BRAF (P15056)
L18V (p.Leu18Val) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs1222192591
- ClinGen CA369590193
- ClinVar RCV001768412
- ClinVar RCV001868748
- Conflicting interpretations
- not specified; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.23
- MetaSVM -0.83
- CADD 21.70
- PolyPhen-2 0.99
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score 0.0742
- 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)