L20R (p.Leu20Arg) variant of NRXN1 (Neurexin-1)
L20R (p.Leu20Arg) 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 0.60 / 1. The record also includes population frequency data and structural context.
L20R (p.Leu20Arg) variant details
- p.Leu20Arg
- rs1670923027
- ClinGen CA346824797
- ClinVar RCV001067477
- gnomAD rs1670923027
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.58
- CADD 26.10
- 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