P18A (p.Pro18Ala) variant of KMT2C (Q8NEZ4)
P18A (p.Pro18Ala) 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.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- TOPMed rs1323931123
- gnomAD rs1323931123
- Uncertain significance
- Missense
- REVEL 0.23
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00012)