N84S (p.Asn84Ser) variant of ASH1L (Q9NR48)
N84S (p.Asn84Ser) in ASH1L (Q9NR48) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, autosomal dominant 52. The record also includes variant effect predictions.
N84S (p.Asn84Ser) variant details
- p.Asn84Ser
- rs1668868551
- ClinGen CA342714561
- ClinVar RCV001329679
- Ensembl rs1668868551
- Uncertain significance
- Intellectual disability, autosomal dominant 52
- Missense
- AlphaMissense 0.20
- MetaLR 0.18
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.23
- MutPred 0.08
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 52)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance