R83C (p.Arg83Cys) variant of NLGN3 (Neuroligin-3)
R83C (p.Arg83Cys) 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 0.91 / 1. The record also includes structural context.
R83C (p.Arg83Cys) variant details
- p.Arg83Cys
- rs2147861944
- ClinGen CA413547738
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available