L13P (p.Leu13Pro) variant of RET (P07949)
L13P (p.Leu13Pro) in RET (P07949) is a missense 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD 10-43077296-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.47
- MetaLR 0.93
- MetaSVM 0.80
- CADD 21.30
- PolyPhen-2 0.06
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available