E139V (p.Glu139Val) variant of TPM1 (Tropomyosin alpha-1 chain)
E139V (p.Glu139Val) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Primary dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
E139V (p.Glu139Val) variant details
- p.Glu139Val
- rs727504389
- ClinGen CA018021
- ClinVar RCV000154548
- Ensembl rs727504389
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- AlphaMissense 0.82
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.70
- ClinVar: Likely pathogenic (Primary dilated cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)