P47T (p.Pro47Thr) variant of KMT2C (Q8NEZ4)
P47T (p.Pro47Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P47T (p.Pro47Thr) variant details
- p.Pro47Thr
- TOPMed rs1163121070
- gnomAD rs1163121070
- Missense
- REVEL 0.33
- CADD 24.50
- PolyPhen-2 0.91
- SIFT 0.02
- Population evidence available