G8W (p.Gly8Trp) variant of NTRK1 (P04629)
G8W (p.Gly8Trp) 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 0.22 / 1. The record also includes population frequency data and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- TOPMed rs894958112
- gnomAD rs894958112
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.17
- MetaLR 0.14
- MetaSVM -0.96
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available