S8N (p.Ser8Asn) variant of KMT2C (Q8NEZ4)
S8N (p.Ser8Asn) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- TOPMed rs1398617617
- gnomAD rs1398617617
- Uncertain significance
- Missense
- REVEL 0.36
- CADD 22.20
- PolyPhen-2 0.73
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)