A166T (p.Ala166Thr) variant of TPM1 (Tropomyosin alpha-1 chain)
A166T (p.Ala166Thr) 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 0.91 / 1. The record also includes published literature and structural context.
A166T (p.Ala166Thr) variant details
- p.Ala166Thr
- rs876657662
- ClinGen CA10576996
- ClinVar RCV000221536
- Ensembl rs876657662
- Likely pathogenic
- Primary dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.81
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.97
- SIFT 0.01
- MutPred 0.69
- 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)