T29A (p.Thr29Ala) variant of C9ORF72 (Q96LT7)
T29A (p.Thr29Ala) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- TOPMed rs1421731133
- gnomAD rs1421731133
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.28
- CADD 23.80
- PolyPhen-2 0.65
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available