A16D (p.Ala16Asp) variant of NTRK1 (P04629)
A16D (p.Ala16Asp) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- rs2102853641
- gnomAD 1-156842157-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.77
- MetaLR 0.76
- MetaSVM 0.63
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available