G18C (p.Gly18Cys) variant of KMT2A (Q03164)
G18C (p.Gly18Cys) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
G18C (p.Gly18Cys) variant details
- p.Gly18Cys
- Ensembl rs1555138476
- Missense
- REVEL 0.21
- MetaLR 0.32
- MetaSVM -0.75
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.4e-05)