A8P (p.Ala8Pro) variant of MYPN (Myopalladin)
A8P (p.Ala8Pro) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- rs2042239747
- ClinGen CA377103449
- ClinVar RCV002044116
- ClinVar RCV005443411
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available