Q39R (p.Gln39Arg) variant of SCN2A (Q99250)
Q39R (p.Gln39Arg) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- ExAC rs778773546
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM -0.04
- CADD 19.80
- Most common in the Amish population (allele frequency 1)
- Structural context available