A30T (p.Ala30Thr) variant of KMT2A (Q03164)
A30T (p.Ala30Thr) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- Ensembl rs2134152494
- Missense
- REVEL 0.15
- MetaLR 0.42
- MetaSVM -0.60
- CADD 22.90
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)