A45T (p.Ala45Thr) variant of DNMT3A (Q9Y6K1)
A45T (p.Ala45Thr) in DNMT3A (Q9Y6K1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A45T (p.Ala45Thr) variant details
- p.Ala45Thr
- Ensembl rs2149405178
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- MetaLR 0.47
- MetaSVM -0.61
- CADD 9.04
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available