R13K (p.Arg13Lys) variant of PLN (Phospholamban)
R13K (p.Arg13Lys) in PLN (Phospholamban) 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 0.82 / 1. The record also includes population frequency data and structural context.
R13K (p.Arg13Lys) variant details
- p.Arg13Lys
- rs1322414081
- ClinGen CA365546093
- ClinVar RCV002357459
- gnomAD rs1322414081
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- REVEL 0.88
- MetaLR 0.71
- MetaSVM 0.55
- CADD 26.40
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available