D48Y (p.Asp48Tyr) variant of ASH1L (Q9NR48)
D48Y (p.Asp48Tyr) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions and population frequency data.
D48Y (p.Asp48Tyr) variant details
- p.Asp48Tyr
- rs2524743805
- ClinGen CA342715816
- ClinVar RCV003409121
- Uncertain significance
- not provided
- Missense
- REVEL 0.34
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)