I12F (p.Ile12Phe) variant of MYPN (Myopalladin)
I12F (p.Ile12Phe) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
I12F (p.Ile12Phe) variant details
- p.Ile12Phe
- rs1159854025
- gnomAD 10-68106791-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- MetaLR 0.09
- MetaSVM -1.09
- CADD 17.60
- SIFT 0.15
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available