D58H (p.Asp58His) variant of TPM1 (Tropomyosin alpha-1 chain)
D58H (p.Asp58His) 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 0.92 / 1. The record also includes structural context.
D58H (p.Asp58His) variant details
- p.Asp58His
- rs199476304
- ClinGen CA018682
- ClinVar RCV000024571
- ClinVar RCV000456653
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- AlphaMissense 0.83
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.67
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available