A4T (p.Ala4Thr) variant of NRXN1 (Neurexin-1)
A4T (p.Ala4Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs201209686
- ClinGen CA48054952
- cosmic curated COSV68037
- ClinVar RCV002616047
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.17
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.18
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.7e-05)
- Structural context available