G18S (p.Gly18Ser) variant of KMT2A (Q03164)
G18S (p.Gly18Ser) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G18S (p.Gly18Ser) variant details
- p.Gly18Ser
- gnomAD 11-118436564-G-A
- Missense
- REVEL 0.20
- MetaLR 0.24
- MetaSVM -0.84
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the South Asian population (allele frequency 5.2e-05)
- Literature evidence available