S2* (p.Ser2Ter) variant of RNF207 (RING finger protein 207)
S2* (p.Ser2Ter) in RNF207 (RING finger protein 207) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- gnomAD 1-6206540-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available