E52K (p.Glu52Lys) variant of NRXN2 (Neurexin-2)
E52K (p.Glu52Lys) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- TOPMed rs1011274314
- gnomAD rs1011274314
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.53
- MetaLR 0.48
- MetaSVM -0.04
- CADD 23.70
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available