L18Q (p.Leu18Gln) variant of NRXN1 (Neurexin-1)
L18Q (p.Leu18Gln) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- Ensembl rs56173198
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available