T12I (p.Thr12Ile) variant of DNMT3A (Q9Y6K1)
T12I (p.Thr12Ile) 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.
T12I (p.Thr12Ile) variant details
- p.Thr12Ile
- TOPMed rs1013949923
- gnomAD rs1013949923
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- MetaLR 0.51
- MetaSVM -0.27
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available