L6P (p.Leu6Pro) variant of NRXN1 (Neurexin-1)
L6P (p.Leu6Pro) 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 0.49 / 1. The record also includes population frequency data and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs1220439982
- ClinGen CA346824876
- ClinVar RCV003509261
- TOPMed rs1220439982
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 21.20
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available