A32L (p.Ala32Leu) variant of TPM1 (Tropomyosin alpha-1 chain)
A32L (p.Ala32Leu) 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 Hypertrophic cardiomyopathy. The record also includes structural context.
A32L (p.Ala32Leu) variant details
- p.Ala32Leu
- rs2031440279
- ClinGen CA2182486487
- ClinVar RCV001320284
- Ensembl rs2031440279
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available