H13L (p.His13Leu) variant of NTRK1 (P04629)
H13L (p.His13Leu) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
H13L (p.His13Leu) variant details
- p.His13Leu
- gnomAD 1-156860972-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.95
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available