P63L (p.Pro63Leu) variant of SCN2A (Q99250)
P63L (p.Pro63Leu) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar 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 0.94 / 1. The record also includes structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- cosmic curated COSV10730
- Uncertain significance
- Seizures, benign familial infantile, 3; Developmental and epileptic encephalopat
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.88
- ClinVar: Uncertain significance (Seizures, benign familial infantile, 3; Developmental and epilep)
- UniProt: Uncertain significance
- Structural context available