T29I (p.Thr29Ile) variant of C9ORF72 (Q96LT7)
T29I (p.Thr29Ile) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- ESP rs140145837
- ExAC rs140145837
- TOPMed rs140145837
- gnomAD rs140145837
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.39
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available