P22S (p.Pro22Ser) variant of KMT2C (Q8NEZ4)
P22S (p.Pro22Ser) in KMT2C (Q8NEZ4) 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.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- 1000Genomes rs568758596
- ExAC rs568758596
- TOPMed rs568758596
- gnomAD rs568758596
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.43
- CADD 20.60
- PolyPhen-2 0.96
- SIFT 0.65
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0087)