S13I (p.Ser13Ile) variant of MYPN (Myopalladin)
S13I (p.Ser13Ile) in MYPN (Myopalladin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- gnomAD 10-68121472-A-AT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available