G543S (p.Gly543Ser) variant of DNMT3A (Q9Y6K1)
G543S (p.Gly543Ser) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G543S (p.Gly543Ser) variant details
- p.Gly543Ser
- rs752222356
- ClinGen CA346072143
- ClinVar RCV003140539
- ExAC rs752222356
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.82
- CADD 26.30
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)