R37P (p.Arg37Pro) variant of KMT2C (Q8NEZ4)
R37P (p.Arg37Pro) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R37P (p.Arg37Pro) variant details
- p.Arg37Pro
- gnomAD rs1270352611
- Missense
- REVEL 0.59
- CADD 25.30
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)