D63Y (p.Asp63Tyr) variant of ASH1L (Q9NR48)
D63Y (p.Asp63Tyr) 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.
D63Y (p.Asp63Tyr) variant details
- p.Asp63Tyr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.19
- CADD 22.80
- PolyPhen-2 0.24
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)