A75E (p.Ala75Glu) variant of NLGN3 (Neuroligin-3)
A75E (p.Ala75Glu) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
A75E (p.Ala75Glu) variant details
- p.Ala75Glu
- gnomAD X-71147973-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.93
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available