M1588T (p.Met1588Thr) variant of EP300 (Histone acetyltransferase p300)
M1588T (p.Met1588Thr) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
M1588T (p.Met1588Thr) variant details
- p.Met1588Thr
- rs1057521737
- ClinGen CA16609101
- ClinVar RCV000433287
- ClinVar RCV000454987
- Pathogenic/Likely pathogenic
- not provided; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.94
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Rubinstein-Taybi syndrome due to EP300 haploinsuff)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)