A29V (p.Ala29Val) variant of NTRK2 (Q16620)
A29V (p.Ala29Val) in NTRK2 (Q16620) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
A29V (p.Ala29Val) variant details
- p.Ala29Val
- rs2058654001
- ClinGen CA374004706
- ClinVar RCV002702648
- TOPMed rs2058654001
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.62
- PolyPhen-2 0.69
- SIFT 0.43
- MutPred 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)