R8P (p.Arg8Pro) variant of NRXN2 (Neurexin-2)
R8P (p.Arg8Pro) 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 0.17 / 1. The record also includes population frequency data and structural context.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs940303150
- ClinGen CA223881900
- ClinVar RCV004186440
- TOPMed rs940303150
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -1.03
- CADD 14.00
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8e-05)
- Structural context available