S46R (p.Ser46Arg) variant of NTRK2 (Q16620)
S46R (p.Ser46Arg) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of NTRK2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- rs1211901247
- ClinGen CA374004813
- ClinVar RCV003408670
- TOPMed rs1211901247
- Uncertain significance
- NTRK2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.55
- CADD 20.30
- PolyPhen-2 0.11
- SIFT 0.55
- ClinVar: Uncertain significance (NTRK2-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available