Y223C (p.Tyr223Cys) variant of ETS1 (Protein C-ets-1)
Y223C (p.Tyr223Cys) in ETS1 (Protein C-ets-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y223C (p.Tyr223Cys) variant details
- p.Tyr223Cys
- rs1317417666
- gnomAD 11-128484999-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.25
- MetaLR 0.15
- MetaSVM -0.91
- CADD 24.90
- PolyPhen-2 0.53
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available