T119A (p.Thr119Ala) variant of C9ORF72 (Q96LT7)
T119A (p.Thr119Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T119A (p.Thr119Ala) variant details
- p.Thr119Ala
- TOPMed rs1407836422
- gnomAD rs1407836422
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.02
- AlphaMissense 0.32
- MetaLR 0.16
- MetaSVM -0.93
- CADD 16.80
- PolyPhen-2 0.95
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available