L2Q (p.Leu2Gln) variant of NTRK1 (P04629)
L2Q (p.Leu2Gln) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L2Q (p.Leu2Gln) variant details
- p.Leu2Gln
- gnomAD 1-156860939-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.94
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available