E83K (p.Glu83Lys) variant of BRAF (P15056)
E83K (p.Glu83Lys) 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 0.63 / 1. The record also includes population frequency data and structural context.
E83K (p.Glu83Lys) variant details
- p.Glu83Lys
- rs753354016
- ClinGen CA4516997
- ClinVar RCV001043159
- ExAC rs753354016
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- MetaLR 0.27
- MetaSVM -0.46
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available