R101Q (p.Arg101Gln) variant of NLGN4X (Neuroligin-4, X-linked)
R101Q (p.Arg101Gln) in NLGN4X (Neuroligin-4, X-linked) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R101Q (p.Arg101Gln) variant details
- p.Arg101Gln
- rs267606492
- cosmic curated COSV10586
- NCI-TCGA Cosmic COSV5203
- Ensembl rs267606492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.45
- MetaLR 0.52
- MetaSVM -0.35
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available