A33T (p.Ala33Thr) variant of NTRK1 (P04629)
A33T (p.Ala33Thr) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- NCI-TCGA TCGA novel
- 1000Genomes rs777913530
- ExAC rs777913530
- TOPMed rs777913530
- Uncertain significance
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.98
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Hereditary insensitivity to pain with anhidrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available