P40T (p.Pro40Thr) variant of KMT2C (Q8NEZ4)
P40T (p.Pro40Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P40T (p.Pro40Thr) variant details
- p.Pro40Thr
- Ensembl rs2116821295
- Missense
- REVEL 0.52
- CADD 24.00
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available