S49G (p.Ser49Gly) variant of NRXN2 (Neurexin-2)
S49G (p.Ser49Gly) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S49G (p.Ser49Gly) variant details
- p.Ser49Gly
- Ensembl rs2135676870
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.14
- MetaLR 0.26
- MetaSVM -0.87
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.16
- Population evidence available
- Structural context available