H43L (p.His43Leu) variant of MYPN (Myopalladin)
H43L (p.His43Leu) in MYPN (Myopalladin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H43L (p.His43Leu) variant details
- p.His43Leu
- ExAC rs752439535
- TOPMed rs752439535
- gnomAD rs752439535
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available