T3M (p.Thr3Met) variant of NRXN1 (Neurexin-1)
T3M (p.Thr3Met) 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.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- rs1670941293
- ClinGen CA346824892
- cosmic curated COSV68023
- ClinVar RCV001320024
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.01
- 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 3.3e-05)
- Structural context available