A17E (p.Ala17Glu) variant of NTRK1 (P04629)
A17E (p.Ala17Glu) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD 1-156860984-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -0.96
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available