R7L (p.Arg7Leu) variant of NTRK1 (P04629)
R7L (p.Arg7Leu) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- gnomAD rs1286464365
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -1.00
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available