E13K (p.Glu13Lys) variant of BRAF (P15056)
E13K (p.Glu13Lys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs1563042573
- ClinGen CA369590226
- ClinVar RCV000680639
- Ensembl rs1563042573
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- MetaLR 0.20
- MetaSVM -0.89
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.0899