A76D (p.Ala76Asp) variant of NLGN3 (Neuroligin-3)
A76D (p.Ala76Asp) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A76D (p.Ala76Asp) variant details
- p.Ala76Asp
- gnomAD X-71147976-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.28
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available