T241M (p.Thr241Met) variant of BRAF (P15056)
T241M (p.Thr241Met) in BRAF (P15056) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of BRAF-related disorder; Cardio-facio-cutaneous syndrome; Noonan syndrome 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
T241M (p.Thr241Met) variant details
- p.Thr241Met
- rs387906660
- ClinGen CA259660
- NCI-TCGA Cosmic COSV5628
- cosmic curated COSV56289
- Pathogenic/Likely pathogenic
- BRAF-related disorder; Cardio-facio-cutaneous syndrome; Noonan syndrome 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (BRAF-related disorder; Cardio-facio-cutaneous syndrome; Noonan s)
- EBI: Pathogenic (in NS7)
- UniProt: Pathogenic (in NS7)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated… (PMID 19206169)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)