T241P (p.Thr241Pro) variant of BRAF (P15056)
T241P (p.Thr241Pro) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardio-facio-cutaneous syndrome; RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
T241P (p.Thr241Pro) variant details
- p.Thr241Pro
- rs387906661
- ClinGen CA128663
- ClinVar RCV000022680
- ClinVar RCV000022681
- Pathogenic/Likely pathogenic
- Cardio-facio-cutaneous syndrome; RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic/Likely pathogenic (Cardio-facio-cutaneous syndrome; RASopathy; not provided)
- EBI: Pathogenic (in CFC1 and LPRD3)
- UniProt: Pathogenic (in CFC1 and LPRD3)
- Structural context available
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)