K60R (p.Lys60Arg) variant of SCN2A (Q99250)
K60R (p.Lys60Arg) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K60R (p.Lys60Arg) variant details
- p.Lys60Arg
- rs1696487020
- ClinGen CA349010363
- ClinVar RCV001301912
- Ensembl rs1696487020
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.93
- MetaSVM 1.06
- CADD 24.20
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)