A17V (p.Ala17Val) variant of DNMT3A (Q9Y6K1)
A17V (p.Ala17Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- rs1299885148
- ClinGen CA346254365
- ClinVar RCV002598914
- TOPMed rs1299885148
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.31
- MetaLR 0.54
- MetaSVM -0.51
- CADD 4.96
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NORTHERNHAN population (allele frequency 0.05)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)