P11S (p.Pro11Ser) variant of EP300 (Histone acetyltransferase p300)
P11S (p.Pro11Ser) 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 EP300-related disorder; Rubinstein-Taybi syndrome due to EP300 haploinsufficienc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs762278198
- ClinGen CA10252141
- ClinVar RCV002637526
- ClinVar RCV003404118
- Conflicting interpretations
- EP300-related disorder; Rubinstein-Taybi syndrome due to EP300 haploinsufficienc
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.40
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (EP300-related disorder; Rubinstein-Taybi syndrome due to EP300 h)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)