R580Q (p.Arg580Gln) variant of EP300 (Histone acetyltransferase p300)
R580Q (p.Arg580Gln) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R580Q (p.Arg580Gln) variant details
- p.Arg580Gln
- NCI-TCGA Cosmic COSV5432
- Ensembl rs2145722816
- Likely pathogenic
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available