A16G (p.Ala16Gly) variant of NTRK1 (P04629)
A16G (p.Ala16Gly) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- rs779943666
- gnomAD 1-156842190-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.62
- MetaLR 0.65
- MetaSVM 0.39
- CADD 25.50
- SIFT 0.23
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available