D55V (p.Asp55Val) variant of SCN2A (Q99250)
D55V (p.Asp55Val) in SCN2A (Q99250) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
D55V (p.Asp55Val) variant details
- p.Asp55Val
- cosmic curated COSV99334
- Uncertain significance
- Developmental and epileptic encephalopathy, 11; Seizures, benign familial infant
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- ESM-1b 1.00
- AlphaMissense 0.89
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 11; Seizures, benign)
- UniProt: Uncertain significance
- Structural context available