L18M (p.Leu18Met) variant of RET (P07949)
L18M (p.Leu18Met) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 10-43077310-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.35
- MetaLR 0.95
- MetaSVM 0.76
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available