G18A (p.Gly18Ala) variant of KMT2A (Q03164)
G18A (p.Gly18Ala) in KMT2A (Q03164) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
G18A (p.Gly18Ala) variant details
- p.Gly18Ala
- gnomAD 11-118436560-CG-C
- Frameshift
- CADD 26.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 6.5e-05)
- Literature evidence available