E23A (p.Glu23Ala) variant of MYPN (Myopalladin)
E23A (p.Glu23Ala) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
E23A (p.Glu23Ala) variant details
- p.Glu23Ala
- gnomAD 10-68109720-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 18.30
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available