P27Q (p.Pro27Gln) variant of KMT2C (Q8NEZ4)
P27Q (p.Pro27Gln) in KMT2C (Q8NEZ4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- ExAC rs769792555
- TOPMed rs769792555
- gnomAD rs769792555
- Uncertain significance
- Missense
- REVEL 0.38
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available