A2S (p.Ala2Ser) variant of KMT2A (Q03164)
A2S (p.Ala2Ser) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 11-118436516-G-T
- Missense
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Literature evidence available