T832I (p.Thr832Ile) variant of DNMT3A (Q9Y6K1)
T832I (p.Thr832Ile) 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 0.87 / 1. The record also includes published literature and structural context.
T832I (p.Thr832Ile) variant details
- p.Thr832Ile
- rs1573297136
- ClinGen CA346068830
- ClinVar RCV000803514
- Ensembl rs1573297136
- Likely pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)