A16L (p.Ala16Leu) variant of NTRK1 (P04629)
A16L (p.Ala16Leu) in NTRK1 (P04629) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A16L (p.Ala16Leu) variant details
- p.Ala16Leu
- gnomAD 1-156842153-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available