L27M (p.Leu27Met) variant of NRXN1 (Neurexin-1)
L27M (p.Leu27Met) 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 0.31 / 1. The record also includes population frequency data and structural context.
L27M (p.Leu27Met) variant details
- p.Leu27Met
- cosmic curated COSV68052
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.21
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available