E33A (p.Glu33Ala) variant of TPM1 (Tropomyosin alpha-1 chain)
E33A (p.Glu33Ala) 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 not provided; Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
E33A (p.Glu33Ala) variant details
- p.Glu33Ala
- rs886039444
- ClinGen CA10588591
- ClinVar RCV000255536
- ClinVar RCV000543459
- Uncertain significance
- not provided; Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.24
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.23
- ClinVar: Uncertain significance (not provided; Primary dilated cardiomyopathy; Hypertrophic cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)