A16E (p.Ala16Glu) variant of NTRK1 (P04629)
A16E (p.Ala16Glu) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- rs779943666
- gnomAD 1-156842190-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.39
- MetaLR 0.29
- MetaSVM -0.65
- CADD 22.00
- PolyPhen-2 0.14
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available