S2345T (p.Ser2345Thr) variant of EP300 (Histone acetyltransferase p300)
S2345T (p.Ser2345Thr) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Menke-Hennekam syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S2345T (p.Ser2345Thr) variant details
- p.Ser2345Thr
- gnomAD rs1260684837
- Likely pathogenic
- Menke-Hennekam syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.31
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 2)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available