A22G (p.Ala22Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
A22G (p.Ala22Gly) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs2031431973
- ClinGen CA392718055
- ClinVar RCV001184165
- ClinVar RCV004008438
- Uncertain significance
- Cardiomyopathy; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.73
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.05
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Cardiomyopathy; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)