S2371T (p.Ser2371Thr) variant of EP300 (Histone acetyltransferase p300)
S2371T (p.Ser2371Thr) 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 Menke-Hennekam syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
S2371T (p.Ser2371Thr) variant details
- p.Ser2371Thr
- rs2059220693
- ClinGen CA411684412
- ClinVar RCV001250421
- Ensembl rs2059220693
- Likely pathogenic
- Menke-Hennekam syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.09
- MetaLR 0.29
- MetaSVM -0.73
- PolyPhen-2 0.02
- SIFT 0.02
- EVE 0.08
- ClinVar: Likely pathogenic (Menke-Hennekam syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available