Q24* (p.Gln24Ter) variant of TPM1 (Tropomyosin alpha-1 chain)
Q24* (p.Gln24Ter) in TPM1 (Tropomyosin alpha-1 chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q24* (p.Gln24Ter) variant details
- p.Gln24Ter
- rs2031433492
- ClinGen CA392718064
- ClinVar RCV002690211
- Ensembl rs2031433492
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.848
- CADD 38.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available