A11P (p.Ala11Pro) variant of C9ORF72 (Q96LT7)
A11P (p.Ala11Pro) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- Ensembl rs1819485878
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.39
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available