T49R (p.Thr49Arg) variant of C9ORF72 (Q96LT7)
T49R (p.Thr49Arg) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T49R (p.Thr49Arg) variant details
- p.Thr49Arg
- 1000Genomes rs201250307
- ESP rs201250307
- ExAC rs201250307
- TOPMed rs201250307
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.04
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available