Q13H (p.Gln13His) variant of KMT2C (Q8NEZ4)
Q13H (p.Gln13His) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
Q13H (p.Gln13His) variant details
- p.Gln13His
- Ensembl rs2097911845
- Missense
- REVEL 0.24
- CADD 22.00
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available