E26K (p.Glu26Lys) variant of BRAF (P15056)
E26K (p.Glu26Lys) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes experimental measurements and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs397507457
- ClinGen CA281927
- cosmic curated COSV10460
- ClinVar RCV000033268
- Conflicting interpretations
- Cardiovascular phenotype; not specified; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.20
- MetaLR 0.19
- MetaSVM -0.77
- PolyPhen-2 0.78
- SIFT 0.07
- MutPred 0.17
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; RASopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRAF Raf-like Ras-binding domain domainome 1.0: score -0.035