S28I (p.Ser28Ile) variant of KMT2C (Q8NEZ4)
S28I (p.Ser28Ile) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- TOPMed rs1245067284
- gnomAD rs1245067284
- Missense
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available