E38D (p.Glu38Asp) variant of ASH1L (Q9NR48)
E38D (p.Glu38Asp) 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.
E38D (p.Glu38Asp) variant details
- p.Glu38Asp
- rs1558188620
- ClinGen CA342716113
- ClinVar RCV001310872
- Ensembl rs1558188620
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.08
- MetaLR 0.20
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance