P22R (p.Pro22Arg) variant of KMT2C (Q8NEZ4)
P22R (p.Pro22Arg) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P22R (p.Pro22Arg) variant details
- p.Pro22Arg
- Ensembl rs2097911555
- Missense
- REVEL 0.41
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 6.9e-05)