R40C (p.Arg40Cys) variant of NRXN2 (Neurexin-2)
R40C (p.Arg40Cys) in NRXN2 (Neurexin-2) is a missense change. Clinical records from ClinVar 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 0.66 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- TOPMed rs903136095
- gnomAD rs903136095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.74
- AlphaMissense 0.11
- MetaLR 0.09
- MetaSVM -1.02
- CADD 32.00
- PolyPhen-2 0.73
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available