A33P (p.Ala33Pro) variant of NTRK1 (P04629)
A33P (p.Ala33Pro) in NTRK1 (P04629) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A33P (p.Ala33Pro) variant details
- p.Ala33Pro
- 1000Genomes rs777913530
- ExAC rs777913530
- TOPMed rs777913530
- gnomAD rs777913530
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.56
- CADD 24.40
- PolyPhen-2 0.51
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available