D63G (p.Asp63Gly) variant of ASH1L (Q9NR48)
D63G (p.Asp63Gly) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
D63G (p.Asp63Gly) variant details
- p.Asp63Gly
- TOPMed rs1430820734
- gnomAD rs1430820734
- Conflicting interpretations
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.22
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)