R462I (p.Arg462Ile) variant of BRAF (P15056)
R462I (p.Arg462Ile) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R462I (p.Arg462Ile) variant details
- p.Arg462Ile
- rs180177032
- ClinGen CA250632
- cosmic curated COSV56275
- ClinVar RCV000014995
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- AlphaMissense 0.99
- MetaLR 0.43
- MetaSVM -0.27
- PolyPhen-2 0.20
- EVE 0.68
- MutPred 0.66
- ClinVar: Pathogenic (Carcinoma of colon)
- 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)