M54I (p.Met54Ile) variant of NRXN1 (Neurexin-1)
M54I (p.Met54Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
M54I (p.Met54Ile) variant details
- p.Met54Ile
- rs1057519409
- ClinGen CA16044393
- ClinVar RCV000417111
- ClinVar RCV002521498
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.34
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available