E3K (p.Glu3Lys) variant of EP300 (Histone acetyltransferase p300)
E3K (p.Glu3Lys) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Menke-Hennekam syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- rs181951278
- ClinGen CA324525050
- ClinVar RCV001198506
- 1000Genomes rs181951278
- Uncertain significance
- Menke-Hennekam syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.51
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Menke-Hennekam syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available