R57I (p.Arg57Ile) variant of NTRK2 (Q16620)
R57I (p.Arg57Ile) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R57I (p.Arg57Ile) variant details
- p.Arg57Ile
- rs758729728
- ClinGen CA5105416
- ClinVar RCV001819324
- ClinVar RCV001869683
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.62
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available