A54V (p.Ala54Val) variant of NLGN3 (Neuroligin-3)
A54V (p.Ala54Val) in NLGN3 (Neuroligin-3) 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, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- gnomAD X-71147910-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.14
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available