R50C (p.Arg50Cys) variant of ASH1L (Q9NR48)
R50C (p.Arg50Cys) in ASH1L (Q9NR48) is a missense change. The record also includes variant effect predictions and population frequency data.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- ESP rs138907231
- ExAC rs138907231
- TOPMed rs138907231
- gnomAD rs138907231
- Missense
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)