E16K (p.Glu16Lys) variant of TPM1 (Tropomyosin alpha-1 chain)
E16K (p.Glu16Lys) 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 0.83 / 1. The record also includes structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- rs727504290
- ClinGen CA392718014
- ClinVar RCV001992902
- Ensembl rs727504290
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.12
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available