R52K (p.Arg52Lys) variant of KMT2C (Q8NEZ4)
R52K (p.Arg52Lys) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R52K (p.Arg52Lys) variant details
- p.Arg52Lys
- Ensembl rs2116821122
- Missense
- REVEL 0.18
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)