L14P (p.Leu14Pro) variant of NRXN1 (Neurexin-1)
L14P (p.Leu14Pro) 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 0.56 / 1. The record also includes population frequency data and structural context.
L14P (p.Leu14Pro) variant details
- p.Leu14Pro
- TOPMed rs1307554186
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.53
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.7e-06)
- Structural context available