R109P (p.Arg109Pro) variant of ASH1L (Q9NR48)
R109P (p.Arg109Pro) in ASH1L (Q9NR48) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and population frequency data.
R109P (p.Arg109Pro) variant details
- p.Arg109Pro
- ExAC rs757357705
- gnomAD rs757357705
- Likely pathogenic
- Missense
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.21
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)