M301V (p.Met301Val) variant of KCNJ2 (P63252)
M301V (p.Met301Val) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
M301V (p.Met301Val) variant details
- p.Met301Val
- rs786205818
- ClinGen CA302055
- ClinVar RCV000170988
- ClinVar RCV000702725
- Conflicting interpretations
- not provided; Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.86
- AlphaMissense 0.72
- MetaLR 0.80
- MetaSVM 0.67
- CADD 23.50
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (not provided; Andersen Tawil syndrome; Short QT syndrome type 3)
- 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)