L14M (p.Leu14Met) variant of NRXN1 (Neurexin-1)
L14M (p.Leu14Met) 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 0.32 / 1. The record also includes population frequency data and structural context.
L14M (p.Leu14Met) variant details
- p.Leu14Met
- rs1670928980
- ClinGen CA346824834
- ClinVar RCV001062694
- Ensembl rs1670928980
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- CADD 19.00
- PolyPhen-2 0.08
- SIFT 0.33
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available