D594N (p.Asp594Asn) variant of BRAF (P15056)
D594N (p.Asp594Asn) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gallbladder cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
D594N (p.Asp594Asn) variant details
- p.Asp594Asn
- rs397516896
- ClinGen CA135095
- NCI-TCGA Cosmic COSV5606
- cosmic curated COSV56061
- Likely pathogenic
- Gallbladder cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- EVE 0.72
- MutPred 0.95
- ClinVar: Likely pathogenic (Gallbladder cancer)
- EBI: Pathogenic (in NHL)
- UniProt: Pathogenic (in NHL)
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean… (PMID 24627688)