E21D (p.Glu21Asp) variant of KMT2C (Q8NEZ4)
E21D (p.Glu21Asp) in KMT2C (Q8NEZ4) is a missense change. The record also includes variant effect predictions and population frequency data.
E21D (p.Glu21Asp) variant details
- p.Glu21Asp
- Ensembl rs2097911586
- Missense
- REVEL 0.12
- CADD 21.00
- PolyPhen-2 0.05
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)