A32S (p.Ala32Ser) variant of TPM1 (Tropomyosin alpha-1 chain)
A32S (p.Ala32Ser) 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 Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
A32S (p.Ala32Ser) variant details
- p.Ala32Ser
- rs2140596321
- ClinGen CA392718133
- ClinVar RCV001525801
- ClinVar RCV002377895
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.09
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.24
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)