R7C (p.Arg7Cys) variant of NTRK1 (P04629)
R7C (p.Arg7Cys) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R7C (p.Arg7Cys) variant details
- p.Arg7Cys
- TOPMed rs1157244084
- gnomAD rs1157244084
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -1.01
- CADD 17.30
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available