D1507E (p.Asp1507Glu) variant of EP300 (Histone acetyltransferase p300)
D1507E (p.Asp1507Glu) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D1507E (p.Asp1507Glu) variant details
- p.Asp1507Glu
- ExAC rs745337408
- gnomAD rs745337408
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.73
- CADD 23.40
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available