P2221Q (p.Pro2221Gln) variant of EP300 (Histone acetyltransferase p300)
P2221Q (p.Pro2221Gln) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carcinoma of colon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
P2221Q (p.Pro2221Gln) variant details
- p.Pro2221Gln
- rs28937578
- ClinGen CA250542
- ClinVar RCV000007284
- UniProt VAR 014431
- Pathogenic
- Carcinoma of colon
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.05
- MetaLR 0.25
- MetaSVM -0.93
- PolyPhen-2 0.00
- SIFT 0.60
- EVE 0.08
- ClinVar: Pathogenic (Carcinoma of colon)
- EBI: Pathogenic (in a colorectal cancer sample)
- UniProt: Pathogenic (in a colorectal cancer sample)
- Structural context available
- Cited in: Mutations truncating the EP300 acetylase in human cancers. (PMID 10700188)
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)