I79M (p.Ile79Met) variant of NLGN3 (Neuroligin-3)
I79M (p.Ile79Met) 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 0.33 / 1. The record also includes population frequency data and structural context.
I79M (p.Ile79Met) variant details
- p.Ile79Met
- rs756256945
- ClinGen CA10444983
- ClinVar RCV003489624
- ExAC rs756256945
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.27
- CADD 21.50
- PolyPhen-2 0.63
- SIFT 0.01
- 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)
- Structural context available