G29C (p.Gly29Cys) variant of KMT2A (Q03164)
G29C (p.Gly29Cys) 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 and population frequency data.
G29C (p.Gly29Cys) variant details
- p.Gly29Cys
- rs1161519468
- ClinGen CA382797098
- ClinVar RCV003670985
- Uncertain significance
- not provided
- Missense
- REVEL 0.22
- MetaLR 0.45
- MetaSVM -0.29
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)