K37Q (p.Lys37Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
K37Q (p.Lys37Gln) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
K37Q (p.Lys37Gln) variant details
- p.Lys37Gln
- rs199476303
- ClinGen CA392718165
- ClinVar RCV001300567
- ClinVar RCV006548070
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.41
- MetaLR 0.87
- MetaSVM 0.65
- PolyPhen-2 0.00
- SIFT 0.22
- MutPred 0.19
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)