R7K (p.Arg7Lys) variant of NTRK1 (P04629)
R7K (p.Arg7Lys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R7K (p.Arg7Lys) variant details
- p.Arg7Lys
- gnomAD 1-156842163-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 17.20
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available