T60I (p.Thr60Ile) variant of C9ORF72 (Q96LT7)
T60I (p.Thr60Ile) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T60I (p.Thr60Ile) variant details
- p.Thr60Ile
- TOPMed rs1405515469
- gnomAD rs1405515469
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.14
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available