P19R (p.Pro19Arg) variant of KMT2C (Q8NEZ4)
P19R (p.Pro19Arg) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and population frequency data.
P19R (p.Pro19Arg) variant details
- p.Pro19Arg
- rs1043931017
- ClinGen CA370104492
- ClinVar RCV003404872
- TOPMed rs1043931017
- Uncertain significance
- not specified
- Missense
- REVEL 0.45
- CADD 23.00
- PolyPhen-2 0.94
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)