G10S (p.Gly10Ser) variant of NRXN1 (Neurexin-1)
G10S (p.Gly10Ser) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs777530225
- ClinGen CA1655570
- cosmic curated COSV68051
- ClinVar RCV000519914
- Uncertain significance
- not provided; Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.47
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00027)
- Structural context available