A45T (p.Ala45Thr) variant of KMT2C (Q8NEZ4)
A45T (p.Ala45Thr) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- gnomAD rs1411941788
- Missense
- REVEL 0.30
- CADD 23.10
- PolyPhen-2 0.82
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)