G10R (p.Gly10Arg) variant of DNMT3A (Q9Y6K1)
G10R (p.Gly10Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- cosmic curated COSV10806
- ExAC rs752093845
- TOPMed rs752093845
- gnomAD rs752093845
- Likely benign
- not provided; Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.23
- MetaLR 0.49
- MetaSVM -0.02
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Likely benign (not provided; Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available