L16M (p.Leu16Met) variant of RET (P07949)
L16M (p.Leu16Met) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L16M (p.Leu16Met) variant details
- p.Leu16Met
- gnomAD 10-43077304-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.31
- MetaLR 0.89
- MetaSVM 0.67
- CADD 18.30
- PolyPhen-2 0.07
- SIFT 0.22
- Population evidence available
- Structural context available
- Literature evidence available