I463S (p.Ile463Ser) variant of BRAF (P15056)
I463S (p.Ile463Ser) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
I463S (p.Ile463Ser) variant details
- p.Ile463Ser
- rs180177033
- ClinGen CA250634
- cosmic curated COSV56243
- ClinVar RCV000014996
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 1.00
- MetaLR 0.62
- MetaSVM 0.53
- PolyPhen-2 1.00
- EVE 0.68
- MutPred 0.86
- ClinVar: Pathogenic (Carcinoma of colon)
- EBI: Pathogenic (in CRC)
- UniProt: Pathogenic (in CRC)
- 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)