R12L (p.Arg12Leu) variant of RET (P07949)
R12L (p.Arg12Leu) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 10-43077293-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- MetaLR 0.75
- MetaSVM 0.15
- CADD 19.80
- PolyPhen-2 0.02
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available