A45S (p.Ala45Ser) variant of KMT2C (Q8NEZ4)
A45S (p.Ala45Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- gnomAD rs1411941788
- Missense
- REVEL 0.29
- CADD 21.90
- PolyPhen-2 0.84
- SIFT 0.52
- Most common in the South Asian population (allele frequency 1.3e-05)