T599I (p.Thr599Ile) variant of BRAF (P15056)
T599I (p.Thr599Ile) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
T599I (p.Thr599Ile) variant details
- p.Thr599Ile
- rs121913375
- ClinGen CA281995
- cosmic curated COSV56072
- ClinVar RCV000033334
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.29
- PolyPhen-2 0.65
- EVE 0.71
- MutPred 0.70
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)
- Cited in: 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and… (PMID 25173338)