K601E (p.Lys601Glu) variant of BRAF (P15056)
K601E (p.Lys601Glu) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Non-small cell lung carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K601E (p.Lys601Glu) variant details
- p.Lys601Glu
- rs121913364
- ClinGen CA123645
- NCI-TCGA Cosmic COSV5605
- cosmic curated COSV56058
- Pathogenic
- Non-small cell lung carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.98
- MetaLR 0.24
- MetaSVM -0.77
- PolyPhen-2 0.99
- EVE 0.67
- MutPred 0.86
- ClinVar: Pathogenic (Non-small cell lung carcinoma)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- Population evidence available
- Structural context available
- Cited in: Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. (PMID 12198537)
- Cited in: BRAF mutations in metastatic melanoma: a possible association with clinical outcome. (PMID 12960123)