F30S (p.Phe30Ser) variant of KCNJ2 (P63252)
F30S (p.Phe30Ser) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- rs2509920752
- ClinGen CA400859837
- ClinVar RCV003796020
- Uncertain significance
- Andersen Tawil syndrome; Short QT syndrome type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.92
- CADD 23.00
- PolyPhen-2 0.35
- SIFT 0.10
- ClinVar: Uncertain significance (Andersen Tawil syndrome; Short QT syndrome type 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)