S28N (p.Ser28Asn) variant of KMT2C (Q8NEZ4)
S28N (p.Ser28Asn) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- TOPMed rs1245067284
- gnomAD rs1245067284
- Missense
- REVEL 0.25
- CADD 23.40
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.0002)