C108R (p.Cys108Arg) variant of ASH1L (Q9NR48)
C108R (p.Cys108Arg) 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.
C108R (p.Cys108Arg) variant details
- p.Cys108Arg
- rs2148843074
- ClinGen CA342713647
- ClinVar RCV001759068
- Ensembl rs2148843074
- Uncertain significance
- not provided
- Missense
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance