A46S (p.Ala46Ser) variant of C9ORF72 (Q96LT7)
A46S (p.Ala46Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- ExAC rs778062788
- gnomAD rs778062788
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.09
- AlphaMissense 0.99
- MetaLR 0.52
- MetaSVM -0.15
- CADD 16.90
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available