R40P (p.Arg40Pro) variant of KCNJ2 (P63252)
R40P (p.Arg40Pro) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Andersen Tawil syndrome; Short QT syndrome type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
R40P (p.Arg40Pro) variant details
- p.Arg40Pro
- rs766143485
- ClinGen CA16615669
- ClinVar RCV000473222
- ExAC rs766143485
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- AlphaMissense 0.20
- MetaLR 0.23
- MetaSVM -0.84
- PolyPhen-2 0.05
- SIFT 0.02
- EVE 0.16
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Benign
- UniProt: Benign
- 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)