E30G (p.Glu30Gly) variant of DNMT3A (Q9Y6K1)
E30G (p.Glu30Gly) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E30G (p.Glu30Gly) variant details
- p.Glu30Gly
- rs143730975
- ClinGen CA346251761
- ClinVar RCV003746254
- ClinVar RCV005240871
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.53
- MetaLR 0.80
- MetaSVM 0.84
- CADD 26.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)