D4Q (p.Asp4Gln) variant of MYPN (Myopalladin)
D4Q (p.Asp4Gln) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
D4Q (p.Asp4Gln) variant details
- p.Asp4Gln
- gnomAD 10-68121447-CGA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.552
- CADD 32.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available