V73L (p.Val73Leu) variant of SCN1A (P35498)
V73L (p.Val73Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V73L (p.Val73Leu) variant details
- p.Val73Leu
- TOPMed rs201229812
- Uncertain significance
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.08
- ClinVar: Uncertain significance (Early-infantile DEE; not provided)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available