E131K (p.Glu131Lys) variant of NRXN2 (Neurexin-2)
E131K (p.Glu131Lys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- ExAC rs769052958
- TOPMed rs769052958
- gnomAD rs769052958
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.49
- MetaLR 0.53
- MetaSVM -0.12
- CADD 24.00
- PolyPhen-2 0.49
- SIFT 0.00
- Population evidence available
- Structural context available