I12N (p.Ile12Asn) variant of MYPN (Myopalladin)
I12N (p.Ile12Asn) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I12N (p.Ile12Asn) variant details
- p.Ile12Asn
- gnomAD 10-68106792-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- MetaLR 0.11
- MetaSVM -1.02
- CADD 19.10
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available