T66S (p.Thr66Ser) variant of C9ORF72 (Q96LT7)
T66S (p.Thr66Ser) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T66S (p.Thr66Ser) variant details
- p.Thr66Ser
- ESP rs373709108
- ExAC rs373709108
- TOPMed rs373709108
- gnomAD rs373709108
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.37
- AlphaMissense 0.99
- MetaLR 0.14
- MetaSVM -0.98
- CADD 25.40
- PolyPhen-2 0.11
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available