A79S (p.Ala79Ser) variant of DNMT3A (Q9Y6K1)
A79S (p.Ala79Ser) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- ExAC rs765111399
- gnomAD rs765111399
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.33
- MetaLR 0.74
- MetaSVM 0.36
- CADD 22.80
- PolyPhen-2 0.74
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available