Q93H (p.Gln93His) variant of BRAF (P15056)
Q93H (p.Gln93His) 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 structural context.
Q93H (p.Gln93His) variant details
- p.Gln93His
- rs150050723
- TOPMed rs150050723
- ClinGen CA369593889
- ClinVar RCV003870486
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- AlphaMissense 0.96
- MetaLR 0.42
- MetaSVM -0.30
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.22
- ClinVar: Uncertain significance (RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available