S35C (p.Ser35Cys) variant of EP300 (Histone acetyltransferase p300)
S35C (p.Ser35Cys) 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 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- rs2145696235
- ClinGen CA411679576
- ClinVar RCV002554127
- Ensembl rs2145696235
- Uncertain significance
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.54
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)