R55L (p.Arg55Leu) variant of NLGN3 (Neuroligin-3)
R55L (p.Arg55Leu) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R55L (p.Arg55Leu) variant details
- p.Arg55Leu
- gnomAD X-71147913-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.56
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.19
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available