R4W (p.Arg4Trp) variant of NLGN3 (Neuroligin-3)
R4W (p.Arg4Trp) in NLGN3 (Neuroligin-3) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs376877146
- ClinGen CA10444960
- ClinVar RCV000487940
- ClinVar RCV001821407
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.19
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:STU population (allele frequency 0.036)
- Cited in: Cone rod dystrophies. (PMID 17270046)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)