Q94K (p.Gln94Lys) variant of BRAF (P15056)
Q94K (p.Gln94Lys) 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 0.59 / 1. The record also includes population frequency data and structural context.
Q94K (p.Gln94Lys) variant details
- p.Gln94Lys
- rs1002421360
- ClinGen CA168127413
- ClinVar RCV002030123
- ClinVar RCV003913422
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- MetaLR 0.25
- MetaSVM -0.64
- CADD 20.20
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available