L18A (p.Leu18Ala) variant of RET (P07949)
L18A (p.Leu18Ala) in RET (P07949) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L18A (p.Leu18Ala) variant details
- p.Leu18Ala
- gnomAD 10-43077308-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available