S2L (p.Ser2Leu) variant of NTRK2 (Q16620)
S2L (p.Ser2Leu) 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 0.18 / 1. The record also includes population frequency data.
S2L (p.Ser2Leu) variant details
- p.Ser2Leu
- TOPMed rs1181805012
- gnomAD rs1181805012
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.05
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)