P18T (p.Pro18Thr) variant of KMT2C (Q8NEZ4)
P18T (p.Pro18Thr) 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.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- TOPMed rs1323931123
- gnomAD rs1323931123
- Uncertain significance
- Missense
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.07
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)