R86S (p.Arg86Ser) variant of NRXN2 (Neurexin-2)
R86S (p.Arg86Ser) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R86S (p.Arg86Ser) variant details
- p.Arg86Ser
- cosmic curated COSV55458
- 1000Genomes rs200558486
- ESP rs200558486
- ExAC rs200558486
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.17
- CADD 23.60
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.045)
- Structural context available