T232K (p.Thr232Lys) variant of ETS1 (Protein C-ets-1)
T232K (p.Thr232Lys) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T232K (p.Thr232Lys) variant details
- p.Thr232Lys
- gnomAD 11-128484993-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.30
- MetaLR 0.28
- MetaSVM -0.66
- CADD 25.20
- PolyPhen-2 0.71
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available