Q7L (p.Gln7Leu) variant of NRXN1 (Neurexin-1)
Q7L (p.Gln7Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes population frequency data and structural context.
Q7L (p.Gln7Leu) variant details
- p.Gln7Leu
- rs1558617775
- ClinGen CA346824870
- ClinVar RCV000706465
- Ensembl rs1558617775
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.26
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available