R7Q (p.Arg7Gln) variant of NTRK1 (P04629)
R7Q (p.Arg7Gln) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R7Q (p.Arg7Gln) variant details
- p.Arg7Gln
- rs756862919
- gnomAD 1-156842169-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 40.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available