D2D (p.Asp2Asp) variant of TPM1 (Tropomyosin alpha-1 chain)
D2D (p.Asp2Asp) in TPM1 (Tropomyosin alpha-1 chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- rs1350935943
- gnomAD 15-63042835-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 16.50
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available