F43L (p.Phe43Leu) variant of NRXN1 (Neurexin-1)
F43L (p.Phe43Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
F43L (p.Phe43Leu) variant details
- p.Phe43Leu
- rs1216338017
- ClinGen CA346824656
- ClinVar RCV002385384
- TOPMed rs1216338017
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.60
- CADD 22.40
- PolyPhen-2 0.23
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)