R8H (p.Arg8His) variant of KMT2A (Q03164)
R8H (p.Arg8His) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
R8H (p.Arg8His) variant details
- p.Arg8His
- Ensembl rs2134151947
- Missense
- REVEL 0.23
- MetaLR 0.33
- MetaSVM -0.50
- CADD 23.90
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.9e-05)