M301R (p.Met301Arg) variant of KCNJ2 (P63252)
M301R (p.Met301Arg) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
M301R (p.Met301Arg) variant details
- p.Met301Arg
- rs876661184
- ClinGen CA10577578
- ClinVar RCV000221740
- ClinVar RCV002288908
- Pathogenic
- not provided; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (not provided; Short QT syndrome type 3)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)