A46D (p.Ala46Asp) variant of C9ORF72 (Q96LT7)
A46D (p.Ala46Asp) 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.
A46D (p.Ala46Asp) variant details
- p.Ala46Asp
- Ensembl rs1053249621
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.06
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available