K12N (p.Lys12Asn) variant of TPM1 (Tropomyosin alpha-1 chain)
K12N (p.Lys12Asn) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
K12N (p.Lys12Asn) variant details
- p.Lys12Asn
- cosmic curated COSV51260
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available