T43S (p.Thr43Ser) variant of DNMT3A (Q9Y6K1)
T43S (p.Thr43Ser) 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 0.46 / 1. The record also includes population frequency data and structural context.
T43S (p.Thr43Ser) variant details
- p.Thr43Ser
- TOPMed rs1417961680
- gnomAD rs1417961680
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.27
- MetaLR 0.65
- MetaSVM 0.01
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available