R771G (p.Arg771Gly) variant of DNMT3A (Q9Y6K1)
R771G (p.Arg771Gly) 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 0.82 / 1. The record also includes population frequency data and structural context.
R771G (p.Arg771Gly) variant details
- p.Arg771Gly
- cosmic curated COSV53073
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.93
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: uncertain significance (in TBRS)
- UniProt: Uncertain significance (in TBRS)
- Population evidence available
- Structural context available