F9L (p.Phe9Leu) variant of KMT2A (Q03164)
F9L (p.Phe9Leu) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
F9L (p.Phe9Leu) variant details
- p.Phe9Leu
- cosmic curated COSV63292
- Ensembl rs2134151964
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.40
- MetaLR 0.35
- MetaSVM -0.41
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available