K30A (p.Lys30Ala) variant of TPM1 (Tropomyosin alpha-1 chain)
K30A (p.Lys30Ala) 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.
K30A (p.Lys30Ala) variant details
- p.Lys30Ala
- rs1555402999
- ClinGen CA658658294
- ClinVar RCV000531857
- Ensembl rs1555402999
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available