A34P (p.Ala34Pro) variant of SCN1A (Nav1.1)
A34P (p.Ala34Pro) in SCN1A (Nav1.1) is a missense change. 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.
A34P (p.Ala34Pro) variant details
- p.Ala34Pro
- ExAC rs765678699
- gnomAD rs765678699
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available