T65R (p.Thr65Arg) variant of DNMT3A (Q9Y6K1)
T65R (p.Thr65Arg) 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 0.63 / 1. The record also includes population frequency data and structural context.
T65R (p.Thr65Arg) variant details
- p.Thr65Arg
- ExAC rs778149141
- TOPMed rs778149141
- gnomAD rs778149141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.50
- MetaLR 0.75
- MetaSVM 0.65
- CADD 18.50
- PolyPhen-2 0.22
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available