T34A (p.Thr34Ala) variant of NTRK2 (Q16620)
T34A (p.Thr34Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T34A (p.Thr34Ala) variant details
- p.Thr34Ala
- rs143073407
- ClinGen CA5105406
- ClinVar RCV001915633
- ClinVar RCV004746500
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.20
- CADD 8.64
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- Structural context available