S54G (p.Ser54Gly) variant of NRXN2 (Neurexin-2)
S54G (p.Ser54Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S54G (p.Ser54Gly) variant details
- p.Ser54Gly
- gnomAD rs1414551444
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.63
- MetaLR 0.52
- MetaSVM 0.08
- CADD 26.10
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available