D134D (p.Asp134Asp) variant of CALM2 (Calmodulin-2)
D134D (p.Asp134Asp) in CALM2 (Calmodulin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D134D (p.Asp134Asp) variant details
- p.Asp134Asp
- rs1687163831
- gnomAD 2-47161742-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 10.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available