R556S (p.Arg556Ser) variant of DNMT3A (Q9Y6K1)
R556S (p.Arg556Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R556S (p.Arg556Ser) variant details
- p.Arg556Ser
- rs1674465974
- cosmic curated COSV53056
- gnomAD rs1674465974
- ClinGen CA346072045
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.74
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available