L13Q (p.Leu13Gln) variant of RET (P07949)
L13Q (p.Leu13Gln) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 10-43077296-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- MetaLR 0.93
- MetaSVM 0.75
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available