S30C (p.Ser30Cys) variant of NLGN3 (Neuroligin-3)
S30C (p.Ser30Cys) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- gnomAD X-71147837-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available