K51T (p.Lys51Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
K51T (p.Lys51Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
K51T (p.Lys51Thr) variant details
- p.Lys51Thr
- rs1566937728
- ClinGen CA392718558
- ClinVar RCV001184914
- Ensembl rs1566937728
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.43
- PolyPhen-2 0.00
- SIFT 0.34
- MutPred 0.52
- ClinVar: Uncertain significance (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)