E20K (p.Glu20Lys) variant of DNMT3A (Q9Y6K1)
E20K (p.Glu20Lys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Craniosynostosis syndrome; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- rs781254365
- ClinGen CA44279226
- cosmic curated COSV53080
- ClinVar RCV000997084
- Conflicting interpretations
- not provided; Craniosynostosis syndrome; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.27
- MetaLR 0.49
- MetaSVM -0.13
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided; Craniosynostosis syndrome; Tatton-Brown-Rahman ove)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Genetic basis of potential therapeutic strategies for craniosynostosis. (PMID 21082653)
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)