A24T (p.Ala24Thr) variant of NTRK1 (P04629)
A24T (p.Ala24Thr) 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 0.20 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- TOPMed rs886337406
- gnomAD rs886337406
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -1.03
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available