A46T (p.Ala46Thr) variant of C9ORF72 (Q96LT7)
A46T (p.Ala46Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- ExAC rs778062788
- gnomAD rs778062788
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available