E23Q (p.Glu23Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
E23Q (p.Glu23Gln) 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 0.77 / 1. The record also includes structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs199476302
- ClinGen CA019276
- ClinVar RCV000024589
- ClinVar RCV001053173
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- AlphaMissense 0.46
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 0.92
- SIFT 0.00
- MutPred 0.17
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available