L58S (p.Leu58Ser) variant of NTRK2 (Q16620)
L58S (p.Leu58Ser) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar 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 0.77 / 1. The record also includes population frequency data and structural context.
L58S (p.Leu58Ser) variant details
- p.Leu58Ser
- cosmic curated COSV10437
- ExAC rs747571706
- gnomAD rs747571706
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.84
- AlphaMissense 0.38
- MetaLR 0.91
- MetaSVM 0.99
- CADD 28.90
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available