Q13P (p.Gln13Pro) variant of KMT2C (Q8NEZ4)
Q13P (p.Gln13Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
Q13P (p.Gln13Pro) variant details
- p.Gln13Pro
- TOPMed rs866392536
- gnomAD rs866392536
- Missense
- REVEL 0.26
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)