Q9S (p.Gln9Ser) variant of NTRK1 (P04629)
Q9S (p.Gln9Ser) in NTRK1 (P04629) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q9S (p.Gln9Ser) variant details
- p.Gln9Ser
- gnomAD 1-156860955-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 22.30
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available