C75R (p.Cys75Arg) variant of NRXN2 (Neurexin-2)
C75R (p.Cys75Arg) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C75R (p.Cys75Arg) variant details
- p.Cys75Arg
- ExAC rs769227620
- TOPMed rs769227620
- gnomAD rs769227620
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.70
- MetaLR 0.50
- MetaSVM -0.06
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.4e-05)
- Structural context available