P16T (p.Pro16Thr) variant of KMT2C (Q8NEZ4)
P16T (p.Pro16Thr) 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.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- ExAC rs751297115
- TOPMed rs751297115
- gnomAD rs751297115
- Uncertain significance
- Inborn genetic diseases
- Missense
- REVEL 0.45
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00012)