L62V (p.Leu62Val) variant of SCN2A (Q99250)
L62V (p.Leu62Val) in SCN2A (Q99250) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
L62V (p.Leu62Val) variant details
- p.Leu62Val
- NCI-TCGA Cosmic COSV5183
- cosmic curated COSV51837
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- ESM-1b 0.25
- AlphaMissense 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available