Y1446C (p.Tyr1446Cys) variant of EP300 (Histone acetyltransferase p300)
Y1446C (p.Tyr1446Cys) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Rare genetic intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
Y1446C (p.Tyr1446Cys) variant details
- p.Tyr1446Cys
- rs2145766541
- ClinGen CA411702138
- NCI-TCGA Cosmic COSV5434
- NCI-TCGA Cosmic COSV9960
- Likely pathogenic
- Rare genetic intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- MutPred 0.80
- ClinVar: Likely pathogenic (Rare genetic intellectual disability)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available