A3T (p.Ala3Thr) variant of DNMT3A (Q9Y6K1)
A3T (p.Ala3Thr) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs745380962
- ClinGen CA1556578
- ClinVar RCV002633926
- ClinVar RCV003984337
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- MetaLR 0.47
- MetaSVM -0.40
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)