E26K (p.Glu26Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E26K (p.Glu26Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs2140595656
- ClinGen CA392718076
- NCI-TCGA Cosmic COSV5126
- cosmic curated COSV51260
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 21.60
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available