S60G (p.Ser60Gly) variant of NLGN3 (Neuroligin-3)
S60G (p.Ser60Gly) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- rs2092376672
- ClinGen CA413547312
- ClinVar RCV003229445
- TOPMed rs2092376672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.20
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available