G65S (p.Gly65Ser) variant of NRXN1 (Neurexin-1)
G65S (p.Gly65Ser) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G65S (p.Gly65Ser) variant details
- p.Gly65Ser
- rs1404175088
- NCI-TCGA Cosmic COSV6802
- cosmic curated COSV68022
- TOPMed rs1404175088
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.79
- CADD 24.40
- PolyPhen-2 0.89
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available