P55T (p.Pro55Thr) variant of KMT2C (Q8NEZ4)
P55T (p.Pro55Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P55T (p.Pro55Thr) variant details
- p.Pro55Thr
- gnomAD rs2097171770
- Missense
- REVEL 0.37
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)