G20S (p.Gly20Ser) variant of KMT2A (Q03164)
G20S (p.Gly20Ser) 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.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1305215954
- ClinGen CA382796940
- ClinVar RCV001932893
- TOPMed rs1305215954
- Uncertain significance
- not provided
- Missense
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.71
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)