E40Q (p.Glu40Gln) variant of TPM1 (Tropomyosin alpha-1 chain)
E40Q (p.Glu40Gln) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- rs104894501
- ClinGen CA392718483
- ClinVar RCV000488962
- TOPMed rs104894501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 22.10
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in CMD1Y)
- UniProt: Pathogenic (in CMD1Y)
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available