R64C (p.Arg64Cys) variant of NRXN1 (Neurexin-1)
R64C (p.Arg64Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
R64C (p.Arg64Cys) variant details
- p.Arg64Cys
- rs201566733
- ClinGen CA1655550
- NCI-TCGA Cosmic COSV6800
- cosmic curated COSV68006
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.58
- CADD 25.30
- PolyPhen-2 0.70
- SIFT 0.03
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available