R25G (p.Arg25Gly) variant of NRXN2 (Neurexin-2)
R25G (p.Arg25Gly) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs1430815654
- ClinGen CA381121405
- cosmic curated COSV10720
- ClinVar RCV004493662
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.10
- MetaLR 0.19
- MetaSVM -0.98
- CADD 8.54
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available