A8T (p.Ala8Thr) variant of MYPN (Myopalladin)
A8T (p.Ala8Thr) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs2042239747
- ClinGen CA377103450
- ClinVar RCV001973977
- TOPMed rs2042239747
- Uncertain significance
- Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.20
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.56
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available