E9G (p.Glu9Gly) variant of SOS2 (Son of sevenless homolog 2)
E9G (p.Glu9Gly) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Male infertility due to gonadal dysgenesis or sperm disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- rs2503347123
- ClinGen CA389657626
- ClinVar RCV003991600
- Likely pathogenic
- Male infertility due to gonadal dysgenesis or sperm disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.41
- MetaLR 0.42
- MetaSVM -0.30
- CADD 24.80
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Likely pathogenic (Male infertility due to gonadal dysgenesis or sperm disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available