H43N (p.His43Asn) variant of MYPN (Myopalladin)
H43N (p.His43Asn) in MYPN (Myopalladin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
H43N (p.His43Asn) variant details
- p.His43Asn
- Ensembl rs2042242406
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.19
- CADD 19.90
- PolyPhen-2 0.04
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available