S39R (p.Ser39Arg) variant of NTRK2 (Q16620)
S39R (p.Ser39Arg) 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. 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.
S39R (p.Ser39Arg) variant details
- p.Ser39Arg
- rs147067960
- ClinGen CA195738460
- ClinVar RCV002843445
- ESP rs147067960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.90
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available