E30A (p.Glu30Ala) variant of DNMT3A (Q9Y6K1)
E30A (p.Glu30Ala) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Tatton-Brown-Rahman overgrowth syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E30A (p.Glu30Ala) variant details
- p.Glu30Ala
- rs143730975
- ClinGen CA158306
- cosmic curated COSV53049
- ClinVar RCV000120651
- Benign/Likely benign
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.50
- MetaLR 0.74
- MetaSVM 0.72
- CADD 26.70
- PolyPhen-2 0.90
- SIFT 0.03
- ClinVar: Benign/Likely benign (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.021)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)