A35S (p.Ala35Ser) variant of MYPN (Myopalladin)
A35S (p.Ala35Ser) in MYPN (Myopalladin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dilated cardiomyopathy 1KK. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A35S (p.Ala35Ser) variant details
- p.Ala35Ser
- rs1287546364
- ClinGen CA377103616
- ClinVar RCV000701012
- ClinVar RCV003235363
- Uncertain significance
- not provided; Dilated cardiomyopathy 1KK
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.11
- CADD 17.50
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Dilated cardiomyopathy 1KK)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available