F151L (p.Phe151Leu) variant of NRXN2 (Neurexin-2)
F151L (p.Phe151Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F151L (p.Phe151Leu) variant details
- p.Phe151Leu
- rs2057122061
- ClinGen CA381118428
- ClinVar RCV001251862
- Ensembl rs2057122061
- Likely benign
- Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- REVEL 0.71
- MetaLR 0.57
- MetaSVM 0.09
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.02
- ClinVar: Likely benign (Intellectual disability)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)