C19Y (p.Cys19Tyr) variant of NTRK2 (Q16620)
C19Y (p.Cys19Tyr) 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; Developmental and epileptic encephalopathy, 58. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- rs200698390
- ClinGen CA374004639
- NCI-TCGA Cosmic COSV9945
- cosmic curated COSV99453
- Uncertain significance
- NTRK2-related disorder; Developmental and epileptic encephalopathy, 58
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.42
- SIFT 0.44
- ClinVar: Uncertain significance (NTRK2-related disorder; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available