G26R (p.Gly26Arg) variant of DNMT3A (Q9Y6K1)
G26R (p.Gly26Arg) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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.
G26R (p.Gly26Arg) variant details
- p.Gly26Arg
- rs781524740
- ClinGen CA1556554
- ClinVar RCV001548200
- ClinVar RCV003584975
- Conflicting interpretations
- Tatton-Brown-Rahman overgrowth syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.42
- MetaLR 0.65
- MetaSVM 0.50
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Tatton-Brown-Rahman overgrowth syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)