P22T (p.Pro22Thr) variant of KMT2C (Q8NEZ4)
P22T (p.Pro22Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- 1000Genomes rs568758596
- ExAC rs568758596
- TOPMed rs568758596
- gnomAD rs568758596
- Missense
- REVEL 0.45
- CADD 20.90
- PolyPhen-2 0.96
- SIFT 0.44
- Population evidence available