Q14E (p.Gln14Glu) variant of MYPN (Myopalladin)
Q14E (p.Gln14Glu) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q14E (p.Gln14Glu) variant details
- p.Gln14Glu
- rs1159304336
- gnomAD 10-68109707-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 18.70
- SIFT 0.49
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available