G20C (p.Gly20Cys) variant of KMT2A (Q03164)
G20C (p.Gly20Cys) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G20C (p.Gly20Cys) variant details
- p.Gly20Cys
- gnomAD 11-118436570-G-T
- Missense
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.59
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.00
- Population evidence available
- Literature evidence available