E33K (p.Glu33Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E33K (p.Glu33Lys) 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 not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- rs397516397
- ClinGen CA018447
- NCI-TCGA Cosmic COSV1043
- ClinVar RCV000036371
- Uncertain significance
- not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.73
- CADD 33.00
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Uncertain significance (not specified; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available