E26G (p.Glu26Gly) variant of TPM1 (Tropomyosin alpha-1 chain)
E26G (p.Glu26Gly) in TPM1 (Tropomyosin alpha-1 chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- rs730880234
- ClinGen CA019383
- ClinVar RCV000157543
- Ensembl rs730880234
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 22.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)