G28R (p.Gly28Arg) variant of KMT2A (Q03164)
G28R (p.Gly28Arg) in KMT2A (Q03164) 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.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- rs782113710
- ClinGen CA382797077
- ClinVar RCV003558108
- Uncertain significance
- not provided
- Missense
- AlphaMissense 0.77
- MetaLR 0.28
- MetaSVM -0.72
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance