S2L (p.Ser2Leu) variant of KMT2C (Q8NEZ4)
S2L (p.Ser2Leu) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- 1000Genomes rs556229991
- ExAC rs556229991
- gnomAD rs556229991
- Missense
- REVEL 0.46
- CADD 25.60
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the 1KG:PJL population (allele frequency 0.0059)