A31T (p.Ala31Thr) variant of NTRK2 (Q16620)
A31T (p.Ala31Thr) 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 0.68 / 1. The record also includes population frequency data and structural context.
A31T (p.Ala31Thr) variant details
- p.Ala31Thr
- rs370304899
- ClinGen CA5105405
- cosmic curated COSV52858
- ClinVar RCV001921425
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.72
- CADD 20.90
- PolyPhen-2 0.14
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available