F48S (p.Phe48Ser) variant of NLGN3 (Neuroligin-3)
F48S (p.Phe48Ser) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
F48S (p.Phe48Ser) variant details
- p.Phe48Ser
- Ensembl rs2092376469
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.16
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available