G28W (p.Gly28Trp) variant of KMT2A (Q03164)
G28W (p.Gly28Trp) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes variant effect predictions and population frequency data.
G28W (p.Gly28Trp) variant details
- p.Gly28Trp
- rs782113710
- ClinGen CA6303192
- ClinVar RCV001902146
- ClinVar RCV003388056
- Uncertain significance
- not specified; not provided
- Missense
- REVEL 0.11
- AlphaMissense 0.77
- MetaLR 0.28
- MetaSVM -0.72
- CADD 22.60
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-05)