G22V (p.Gly22Val) variant of KMT2A (Q03164)
G22V (p.Gly22Val) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- gnomAD 11-118436577-G-T
- Missense
- REVEL 0.26
- MetaLR 0.26
- MetaSVM -0.53
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.3e-05)
- Literature evidence available