P47S (p.Pro47Ser) variant of KMT2C (Q8NEZ4)
P47S (p.Pro47Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P47S (p.Pro47Ser) variant details
- p.Pro47Ser
- TOPMed rs1163121070
- gnomAD rs1163121070
- Missense
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.86
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)