T43I (p.Thr43Ile) variant of DNMT3A (Q9Y6K1)
T43I (p.Thr43Ile) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T43I (p.Thr43Ile) variant details
- p.Thr43Ile
- rs1417961680
- ClinGen CA346251671
- ClinVar RCV003091713
- TOPMed rs1417961680
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.30
- MetaLR 0.72
- MetaSVM 0.35
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.33
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)