P8L (p.Pro8Leu) variant of C9ORF72 (Q96LT7)
P8L (p.Pro8Leu) in C9ORF72 (Q96LT7) is a missense change. The record also includes structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- cosmic curated COSV10469
- ESP rs377404268
- TOPMed rs377404268
- Missense
- Structural context available