E26K (p.Glu26Lys) variant of NRXN1 (Neurexin-1)
E26K (p.Glu26Lys) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.49 / 1. The record also includes population frequency data and structural context.
E26K (p.Glu26Lys) variant details
- p.Glu26Lys
- rs201847846
- ClinGen CA346824761
- ClinVar RCV000824207
- ExAC rs201847846
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.41
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available