K38T (p.Lys38Thr) variant of SCN2A (Q99250)
K38T (p.Lys38Thr) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K38T (p.Lys38Thr) variant details
- p.Lys38Thr
- rs2467838227
- ClinGen CA349010017
- ClinVar RCV003321282
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.65
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.89
- MetaSVM 0.92
- CADD 23.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.071)
- Structural context available