D702G (p.Asp702Gly) variant of DNMT3A (Q9Y6K1)
D702G (p.Asp702Gly) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D702G (p.Asp702Gly) variant details
- p.Asp702Gly
- rs1400330086
- ClinGen CA346070751
- ClinVar RCV004515751
- Ensembl rs1400330086
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.96
- CADD 30.00
- PolyPhen-2 0.99
- 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)