R17K (p.Arg17Lys) variant of MYPN (Myopalladin)
R17K (p.Arg17Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R17K (p.Arg17Lys) variant details
- p.Arg17Lys
- rs764444384
- ClinGen CA5522210
- ClinVar RCV002335987
- ExAC rs764444384
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.28
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available