Q2* (p.Gln2Ter) variant of MYPN (Myopalladin)
Q2* (p.Gln2Ter) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q2* (p.Gln2Ter) variant details
- p.Gln2Ter
- rs1168251503
- gnomAD 10-68106737-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 13.70
- Most common in the African/African-American population (allele frequency 6.3e-05)
- Structural context available
- Literature evidence available