S148G (p.Ser148Gly) variant of NRXN2 (Neurexin-2)
S148G (p.Ser148Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
S148G (p.Ser148Gly) variant details
- p.Ser148Gly
- 1000Genomes rs2135675432
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.63
- MetaLR 0.51
- MetaSVM 0.01
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available