R8L (p.Arg8Leu) variant of KMT2A (Q03164)
R8L (p.Arg8Leu) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 11-118436535-G-T
- Missense
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.8e-05)
- Literature evidence available