A27V (p.Ala27Val) variant of EP300 (Histone acetyltransferase p300)
A27V (p.Ala27Val) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- ExAC rs776993553
- TOPMed rs776993553
- gnomAD rs776993553
- Benign
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- CADD 25.60
- PolyPhen-2 0.97
- SIFT 0.08
- ClinVar: Benign (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available