R535Q (p.Arg535Gln) variant of NTRK2 (Q16620)
R535Q (p.Arg535Gln) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Obesity, hyperphagia, and developmental delay; Developmental and epileptic encep. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1.
R535Q (p.Arg535Gln) variant details
- p.Arg535Gln
- rs2078136352
- ClinGen CA374006262
- cosmic curated COSV52858
- ClinVar RCV003994794
- Likely pathogenic
- Obesity, hyperphagia, and developmental delay; Developmental and epileptic encep
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.99
- MetaLR 0.82
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.56
- ClinVar: Likely pathogenic (Obesity, hyperphagia, and developmental delay; Developmental and)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic