S62G (p.Ser62Gly) variant of NTRK2 (Q16620)
S62G (p.Ser62Gly) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- rs915858967
- ClinGen CA195738466
- ClinVar RCV002808797
- ClinVar RCV005059282
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.18
- AlphaMissense 0.22
- MetaLR 0.34
- MetaSVM -0.45
- CADD 18.10
- PolyPhen-2 0.89
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)