T12S (p.Thr12Ser) variant of DNMT3A (Q9Y6K1)
T12S (p.Thr12Ser) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- TOPMed rs1013949923
- gnomAD rs1013949923
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.26
- MetaLR 0.46
- MetaSVM -0.48
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available