P22L (p.Pro22Leu) variant of KCNJ5 (P48544)
P22L (p.Pro22Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- rs1944494149
- ClinGen CA383245545
- ClinVar RCV004520978
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.27
- MetaLR 0.64
- MetaSVM -0.51
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available