M24V (p.Met24Val) variant of KCNJ2 (P63252)
M24V (p.Met24Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M24V (p.Met24Val) variant details
- p.Met24Val
- rs1441314140
- ClinGen CA400859793
- ClinVar RCV003065573
- TOPMed rs1441314140
- Uncertain significance
- Cardiovascular phenotype; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.08
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype; Andersen Tawil syndrome; Short QT synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)