S28R (p.Ser28Arg) variant of KMT2C (Q8NEZ4)
S28R (p.Ser28Arg) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- Ensembl rs1309606619
- Missense
- REVEL 0.32
- CADD 23.70
- PolyPhen-2 0.86
- SIFT 0.00
- Population evidence available