T65K (p.Thr65Lys) variant of DNMT3A (Q9Y6K1)
T65K (p.Thr65Lys) 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 0.58 / 1. The record also includes population frequency data and structural context.
T65K (p.Thr65Lys) variant details
- p.Thr65Lys
- ExAC rs778149141
- TOPMed rs778149141
- gnomAD rs778149141
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.43
- MetaLR 0.74
- MetaSVM 0.63
- CADD 15.30
- PolyPhen-2 0.11
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available