A34G (p.Ala34Gly) variant of SCN1A (P35498)
A34G (p.Ala34Gly) in SCN1A (P35498) 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 0.78 / 1. The record also includes population frequency data and structural context.
A34G (p.Ala34Gly) variant details
- p.Ala34Gly
- Ensembl rs1559284943
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- CADD 25.70
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available