D130G (p.Asp130Gly) variant of ASH1L (Q9NR48)
D130G (p.Asp130Gly) 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.
D130G (p.Asp130Gly) variant details
- p.Asp130Gly
- gnomAD rs1197609630
- Uncertain significance
- not provided
- Missense
- REVEL 0.27
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available