S54I (p.Ser54Ile) variant of NRXN2 (Neurexin-2)
S54I (p.Ser54Ile) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
S54I (p.Ser54Ile) variant details
- p.Ser54Ile
- 1000Genomes rs1592311400
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.72
- MetaLR 0.57
- MetaSVM 0.12
- CADD 26.20
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available