T232M (p.Thr232Met) variant of ETS1 (Protein C-ets-1)
T232M (p.Thr232Met) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
T232M (p.Thr232Met) variant details
- p.Thr232Met
- rs775466195
- gnomAD 11-128484993-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.20
- MetaLR 0.28
- MetaSVM -0.62
- CADD 28.70
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available