T241K (p.Thr241Lys) variant of BRAF (P15056)
T241K (p.Thr241Lys) 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 0.88 / 1. The record also includes published literature and structural context.
T241K (p.Thr241Lys) variant details
- p.Thr241Lys
- rs387906660
- ClinGen CA261663
- ClinVar RCV000037953
- ClinVar RCV000807047
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS7)
- UniProt: Pathogenic (in NS7)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)