R89L (p.Arg89Leu) variant of NTRK3 (NT-3 growth factor receptor)
R89L (p.Arg89Leu) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- ESP rs374069724
- ExAC rs374069724
- TOPMed rs374069724
- gnomAD rs374069724
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available