P69L (p.Pro69Leu) variant of SCN1A (P35498)
P69L (p.Pro69Leu) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- Ensembl rs1684670190
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available