S13N (p.Ser13Asn) variant of NLGN3 (Neuroligin-3)
S13N (p.Ser13Asn) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
S13N (p.Ser13Asn) variant details
- p.Ser13Asn
- rs2092376058
- ClinGen CA413546659
- ClinVar RCV001175512
- Ensembl rs2092376058
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- CADD 9.37
- PolyPhen-2 0.01
- SIFT 0.35
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)