A13G (p.Ala13Gly) variant of EP300 (Histone acetyltransferase p300)
A13G (p.Ala13Gly) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- ExAC rs767107086
- TOPMed rs767107086
- gnomAD rs767107086
- Uncertain significance
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.30
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available