Q16E (p.Gln16Glu) variant of BRAF (P15056)
Q16E (p.Gln16Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q16E (p.Gln16Glu) variant details
- p.Gln16Glu
- TOPMed rs1333413472
- gnomAD rs1333413472
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- MetaLR 0.21
- MetaSVM -0.95
- CADD 17.60
- PolyPhen-2 0.08
- SIFT 1.00
- ClinVar: Uncertain significance (RASopathy)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0217