M54L (p.Met54Leu) variant of NRXN1 (Neurexin-1)
M54L (p.Met54Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
M54L (p.Met54Leu) variant details
- p.Met54Leu
- rs2105333796
- ClinGen CA346824572
- ClinVar RCV002051294
- Ensembl rs2105333796
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.23
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- 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 1.8e-06)
- Structural context available