E545G (p.Glu545Gly) variant of DNMT3A (Q9Y6K1)
E545G (p.Glu545Gly) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
E545G (p.Glu545Gly) variant details
- p.Glu545Gly
- rs1553412485
- ClinGen CA346072131
- ClinVar RCV000677682
- Ensembl rs1553412485
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.61
- CADD 25.70
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)