K248E (p.Lys248Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
K248E (p.Lys248Glu) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Left ventricular noncompaction 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
K248E (p.Lys248Glu) variant details
- p.Lys248Glu
- rs199476319
- ClinGen CA018317
- ClinVar RCV000024597
- ClinVar RCV000054794
- Pathogenic
- Left ventricular noncompaction 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 0.63
- SIFT 0.00
- MutPred 0.47
- ClinVar: Pathogenic (Left ventricular noncompaction 9)
- EBI: Pathogenic (in LVNC9)
- UniProt: Pathogenic (in LVNC9)
- Structural context available
- Cited in: Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. (PMID 21551322)