P41S (p.Pro41Ser) variant of MYPN (Myopalladin)
P41S (p.Pro41Ser) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- rs759400657
- ClinGen CA209185512
- ClinVar RCV000621178
- ClinVar RCV001362433
- Uncertain significance
- Dilated cardiomyopathy 1KK; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.07
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1KK; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available