R55Q (p.Arg55Gln) variant of NLGN3 (Neuroligin-3)
R55Q (p.Arg55Gln) in NLGN3 (Neuroligin-3) 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 0.56 / 1. The record also includes population frequency data and structural context.
R55Q (p.Arg55Gln) variant details
- p.Arg55Gln
- rs764624943
- NCI-TCGA Cosmic COSV6244
- cosmic curated COSV62443
- ExAC rs764624943
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.60
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available