R8C (p.Arg8Cys) variant of KMT2A (Q03164)
R8C (p.Arg8Cys) in KMT2A (Q03164) is a missense change. The record also includes variant effect predictions and population frequency data.
R8C (p.Arg8Cys) variant details
- p.Arg8Cys
- Ensembl rs2134151935
- Missense
- REVEL 0.49
- MetaLR 0.42
- MetaSVM -0.28
- CADD 27.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.5e-05)