L13F (p.Leu13Phe) variant of NRXN1 (Neurexin-1)
L13F (p.Leu13Phe) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs201674835
- ClinGen CA1655568
- cosmic curated COSV10470
- ClinVar RCV001219129
- Conflicting interpretations
- not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.35
- CADD 17.70
- PolyPhen-2 0.15
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (not provided; Pitt-Hopkins-like syndrome 2; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.001)
- 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)