A30S (p.Ala30Ser) variant of KMT2A (Q03164)
A30S (p.Ala30Ser) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A30S (p.Ala30Ser) variant details
- p.Ala30Ser
- gnomAD 11-118436600-G-T
- Missense
- REVEL 0.13
- MetaLR 0.44
- MetaSVM -0.55
- CADD 22.30
- PolyPhen-2 0.84
- SIFT 0.01
- Population evidence available
- Literature evidence available