A79T (p.Ala79Thr) variant of DNMT3A (Q9Y6K1)
A79T (p.Ala79Thr) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- ExAC rs765111399
- gnomAD rs765111399
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.34
- MetaLR 0.76
- MetaSVM 0.51
- CADD 23.40
- PolyPhen-2 0.81
- SIFT 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available