E21G (p.Glu21Gly) variant of KMT2C (Q8NEZ4)
E21G (p.Glu21Gly) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The record also includes variant effect predictions and population frequency data.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- rs766413158
- ClinGen CA4581840
- ClinVar RCV002976154
- ExAC rs766413158
- Benign
- not provided
- Missense
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)