R111C (p.Arg111Cys) variant of NRXN2 (Neurexin-2)
R111C (p.Arg111Cys) 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.
R111C (p.Arg111Cys) variant details
- p.Arg111Cys
- TOPMed rs2057133048
- gnomAD rs2057133048
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.56
- MetaLR 0.55
- MetaSVM -0.00
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available