P47T (p.Pro47Thr) variant of C9ORF72 (Q96LT7)
P47T (p.Pro47Thr) in C9ORF72 (Q96LT7) is a missense change. The record also includes structural context.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- 1000Genomes rs181815263
- ESP rs181815263
- ExAC rs181815263
- TOPMed rs181815263
- Missense
- Structural context available