P233R (p.Pro233Arg) variant of ETS1 (Protein C-ets-1)
P233R (p.Pro233Arg) 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.
P233R (p.Pro233Arg) variant details
- p.Pro233Arg
- rs540929701
- gnomAD 11-128484984-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.29
- AlphaMissense 0.62
- MetaLR 0.23
- MetaSVM -0.74
- CADD 23.30
- PolyPhen-2 0.98
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available
- Literature evidence available