L17Q (p.Leu17Gln) variant of RET (P07949)
L17Q (p.Leu17Gln) in RET (P07949) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- gnomAD 10-43077308-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.43
- MetaLR 0.96
- MetaSVM 0.89
- CADD 28.40
- PolyPhen-2 0.90
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available