C586Y (p.Cys586Tyr) variant of DNMT3A (Q9Y6K1)
C586Y (p.Cys586Tyr) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C586Y (p.Cys586Tyr) variant details
- p.Cys586Tyr
- rs754506713
- ClinGen CA1555881
- ClinVar RCV003585432
- ExAC rs754506713
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.95
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)