A84T (p.Ala84Thr) variant of DNMT3A (Q9Y6K1)
A84T (p.Ala84Thr) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A84T (p.Ala84Thr) variant details
- p.Ala84Thr
- rs753287419
- ClinGen CA1556504
- cosmic curated COSV53080
- ClinVar RCV002612626
- Uncertain significance
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.29
- MetaLR 0.39
- MetaSVM -0.69
- CADD 6.09
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)