T470P (p.Thr470Pro) variant of BRAF (P15056)
T470P (p.Thr470Pro) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
T470P (p.Thr470Pro) variant details
- p.Thr470Pro
- rs1586140512
- ClinGen CA369588876
- ClinVar RCV000824919
- Ensembl rs1586140512
- Likely pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.93
- MetaLR 0.44
- MetaSVM -0.18
- PolyPhen-2 0.14
- EVE 0.63
- MutPred 0.70
- ClinVar: Likely pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)