C5S (p.Cys5Ser) variant of KMT2A (Q03164)
C5S (p.Cys5Ser) 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.
C5S (p.Cys5Ser) variant details
- p.Cys5Ser
- rs1336274284
- ClinGen CA382796670
- ClinVar RCV001774427
- TOPMed rs1336274284
- Uncertain significance
- not provided
- Missense
- REVEL 0.49
- MetaLR 0.48
- MetaSVM -0.03
- CADD 25.90
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available