A30D (p.Ala30Asp) variant of KMT2A (Q03164)
A30D (p.Ala30Asp) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 11-118436601-C-A
- Missense
- REVEL 0.21
- MetaLR 0.47
- MetaSVM -0.47
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.6e-05)
- Literature evidence available