M141I (p.Met141Ile) variant of TPM1 (Tropomyosin alpha-1 chain)
M141I (p.Met141Ile) 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 0.83 / 1. The record also includes published literature and structural context.
M141I (p.Met141Ile) variant details
- p.Met141Ile
- rs397516371
- ClinGen CA018027
- ClinVar RCV000036330
- Ensembl rs397516371
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- AlphaMissense 0.87
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.71
- 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)