S8R (p.Ser8Arg) variant of KMT2C (Q8NEZ4)
S8R (p.Ser8Arg) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- TOPMed rs1293115440
- Missense
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.92
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)