E143K (p.Glu143Lys) variant of NRXN2 (Neurexin-2)
E143K (p.Glu143Lys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E143K (p.Glu143Lys) variant details
- p.Glu143Lys
- cosmic curated COSV10584
- Ensembl rs1021972151
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.30
- MetaLR 0.33
- MetaSVM -0.53
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available