E53A (p.Glu53Ala) variant of NRXN1 (Neurexin-1)
E53A (p.Glu53Ala) 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 0.59 / 1. The record also includes population frequency data and structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- rs1287837969
- ClinGen CA346824578
- ClinVar RCV001063641
- TOPMed rs1287837969
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.59
- CADD 23.20
- PolyPhen-2 0.21
- SIFT 0.09
- 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 2.9e-05)
- Structural context available