A8G (p.Ala8Gly) variant of NTRK3 (NT-3 growth factor receptor)
A8G (p.Ala8Gly) in NTRK3 (NT-3 growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- ExAC rs760529304
- gnomAD rs760529304
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available