R50T (p.Arg50Thr) variant of KMT2C (Q8NEZ4)
R50T (p.Arg50Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
R50T (p.Arg50Thr) variant details
- p.Arg50Thr
- TOPMed rs913978315
- gnomAD rs913978315
- Missense
- REVEL 0.23
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 7.3e-05)