K29E (p.Lys29Glu) variant of TPM1 (Tropomyosin alpha-1 chain)
K29E (p.Lys29Glu) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
K29E (p.Lys29Glu) variant details
- p.Lys29Glu
- gnomAD rs1255071660
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.50
- CADD 25.80
- PolyPhen-2 0.02
- SIFT 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available