T29S (p.Thr29Ser) variant of C9ORF72 (Q96LT7)
T29S (p.Thr29Ser) 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.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- ESP rs140145837
- ExAC rs140145837
- TOPMed rs140145837
- gnomAD rs140145837
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.25
- CADD 25.50
- PolyPhen-2 0.81
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available