L17C (p.Leu17Cys) variant of RET (P07949)
L17C (p.Leu17Cys) in RET (P07949) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L17C (p.Leu17Cys) variant details
- p.Leu17Cys
- gnomAD 10-43077306-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available