S2W (p.Ser2Trp) variant of NTRK2 (Q16620)
S2W (p.Ser2Trp) 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 0.32 / 1. The record also includes population frequency data.
S2W (p.Ser2Trp) variant details
- p.Ser2Trp
- rs1181805012
- ClinGen CA374004526
- ClinVar RCV002796035
- TOPMed rs1181805012
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.69
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)