S3* (p.Ser3Ter) variant of KMT2C (Q8NEZ4)
S3* (p.Ser3Ter) in KMT2C (Q8NEZ4) is a protein-truncating change. The record also includes variant effect predictions and population frequency data.
S3* (p.Ser3Ter) variant details
- p.Ser3Ter
- gnomAD rs1281367709
- Stop Gained
- CADD 35.00
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)