P19L (p.Pro19Leu) variant of KCNJ5 (P48544)
P19L (p.Pro19Leu) in KCNJ5 (P48544) 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 0.35 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs1944493671
- ClinGen CA383245456
- ClinVar RCV002347551
- TOPMed rs1944493671
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.25
- MetaLR 0.64
- MetaSVM -0.77
- CADD 14.60
- PolyPhen-2 0.02
- SIFT 0.62
- ClinVar: Uncertain significance (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