T109A (p.Thr109Ala) variant of C9ORF72 (Q96LT7)
T109A (p.Thr109Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T109A (p.Thr109Ala) variant details
- p.Thr109Ala
- TOPMed rs1306246315
- gnomAD rs1306246315
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.36
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available