P19T (p.Pro19Thr) variant of KMT2C (Q8NEZ4)
P19T (p.Pro19Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- Ensembl rs2116821765
- Missense
- REVEL 0.50
- CADD 21.60
- PolyPhen-2 0.91
- SIFT 0.27
- Most common in the Latino/Admixed American population (allele frequency 3e-05)