E10D (p.Glu10Asp) variant of KMT2C (Q8NEZ4)
E10D (p.Glu10Asp) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kleefstra syndrome 2. The record also includes variant effect predictions and population frequency data.
E10D (p.Glu10Asp) variant details
- p.Glu10Asp
- rs1386734027
- ClinGen CA370104628
- ClinVar RCV002470633
- gnomAD rs1386734027
- Uncertain significance
- Kleefstra syndrome 2
- Missense
- REVEL 0.29
- CADD 17.90
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (Kleefstra syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)