P41T (p.Pro41Thr) variant of MYPN (Myopalladin)
P41T (p.Pro41Thr) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P41T (p.Pro41Thr) variant details
- p.Pro41Thr
- rs759400657
- ClinGen CA377103648
- ClinVar RCV001823425
- ExAC rs759400657
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.09
- CADD 15.20
- PolyPhen-2 0.04
- SIFT 0.64
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available