E37K (p.Glu37Lys) variant of NRXN1 (Neurexin-1)
E37K (p.Glu37Lys) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. 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.
E37K (p.Glu37Lys) variant details
- p.Glu37Lys
- cosmic curated COSV68055
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.39
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.39
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available