M307V (p.Met307Val) variant of KCNJ2 (P63252)
M307V (p.Met307Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac arrhythmia; Cardiovascular phenotype; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
M307V (p.Met307Val) variant details
- p.Met307Val
- rs1555603994
- ClinGen CA400862672
- ClinVar RCV000620128
- ClinVar RCV000644782
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.97
- MetaLR 0.90
- MetaSVM 0.99
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; Short QT syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)