G28A (p.Gly28Ala) variant of NRXN1 (Neurexin-1)
G28A (p.Gly28Ala) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G28A (p.Gly28Ala) variant details
- p.Gly28Ala
- rs199598542
- ClinGen CA1655563
- ClinVar RCV001319832
- UniProt VAR 070274
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 19.70
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance (in dbSNP:rs199598542)
- UniProt: Uncertain significance (in dbSNP:rs199598542)
- Most common in the HGDP:DAI population (allele frequency 0.062)
- Structural context available
- Cited in: Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. (PMID 22892527)