R52S (p.Arg52Ser) variant of NLGN3 (Neuroligin-3)
R52S (p.Arg52Ser) in NLGN3 (Neuroligin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R52S (p.Arg52Ser) variant details
- p.Arg52Ser
- cosmic curated COSV10650
- Ensembl rs2147861588
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.63
- CADD 24.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available