F19L (p.Phe19Leu) variant of BRAF (P15056)
F19L (p.Phe19Leu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- rs745476335
- ClinGen CA4517047
- ClinVar RCV002944118
- ExAC rs745476335
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- MetaLR 0.16
- MetaSVM -0.91
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.256