K37E (p.Lys37Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
K37E (p.Lys37Glu) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
K37E (p.Lys37Glu) variant details
- p.Lys37Glu
- rs199476303
- ClinGen CA018576
- ClinVar RCV000024593
- ClinVar RCV001852576
- Uncertain significance
- 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 (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available