G427C (p.Gly427Cys) variant of NTRK2 (Q16620)
G427C (p.Gly427Cys) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 58; Obesity, hyperphagia, and develo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1.
G427C (p.Gly427Cys) variant details
- p.Gly427Cys
- rs142393662
- ClinGen CA374006995
- ClinVar RCV004799452
- ESP rs142393662
- Likely pathogenic
- Developmental and epileptic encephalopathy, 58; Obesity, hyperphagia, and develo
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.16
- MetaLR 0.32
- MetaSVM -0.77
- PolyPhen-2 0.98
- SIFT 0.02
- MutPred 0.38
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 58; Obesity, hyperph)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic