L5P (p.Leu5Pro) variant of NRXN1 (Neurexin-1)
L5P (p.Leu5Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L5P (p.Leu5Pro) variant details
- p.Leu5Pro
- rs2105335336
- ClinGen CA346824883
- ClinVar RCV001752979
- ClinVar RCV002540674
- Uncertain significance
- Pitt-Hopkins-like syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.25
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available