S35A (p.Ser35Ala) variant of EP300 (Histone acetyltransferase p300)
S35A (p.Ser35Ala) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S35A (p.Ser35Ala) variant details
- p.Ser35Ala
- rs546292445
- ClinGen CA10252190
- ClinVar RCV000598410
- ClinVar RCV006463494
- Conflicting interpretations
- not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Rubinstein-Taybi syndrome due to EP300 haploinsuff)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)