R25L (p.Arg25Leu) variant of NRXN2 (Neurexin-2)
R25L (p.Arg25Leu) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs1295935415
- ClinGen CA381121397
- cosmic curated COSV55460
- ClinVar RCV004493663
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -1.03
- CADD 8.83
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available