Q14* (p.Gln14Ter) variant of MYPN (Myopalladin)
Q14* (p.Gln14Ter) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
Q14* (p.Gln14Ter) variant details
- p.Gln14Ter
- cosmic curated COSV10058
- gnomAD rs1198206685
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available