G30S (p.Gly30Ser) variant of EP300 (Histone acetyltransferase p300)
G30S (p.Gly30Ser) in EP300 (Histone acetyltransferase p300) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300-related disorde. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs2145665814
- ClinGen CA411679526
- ClinVar RCV003427760
- ClinVar RCV003525397
- Uncertain significance
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300-related disorde
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- AlphaMissense 0.30
- MetaLR 0.65
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.13
- ClinVar: Uncertain significance (Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Rubinstein-Taybi Syndrome. (PMID 20301699)