T244P (p.Thr244Pro) variant of BRAF (P15056)
T244P (p.Thr244Pro) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
T244P (p.Thr244Pro) variant details
- p.Thr244Pro
- rs397507465
- ClinGen CA280025
- ClinVar RCV000033282
- ClinVar RCV000037955
- Pathogenic
- Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- AlphaMissense 0.97
- MetaLR 0.79
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.18
- ClinVar: Pathogenic (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC1)
- UniProt: Pathogenic (in CFC1)
- Structural context available
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)