R50H (p.Arg50His) variant of ASH1L (Q9NR48)
R50H (p.Arg50His) in ASH1L (Q9NR48) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
R50H (p.Arg50His) variant details
- p.Arg50His
- rs374072309
- ESP rs374072309
- ExAC rs374072309
- TOPMed rs374072309
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.18
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)