P40S (p.Pro40Ser) variant of KMT2C (Q8NEZ4)
P40S (p.Pro40Ser) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P40S (p.Pro40Ser) variant details
- p.Pro40Ser
- Ensembl rs2116821295
- Missense
- REVEL 0.53
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)