Q54H (p.Gln54His) variant of SOS1 (Son of sevenless homolog 1)
Q54H (p.Gln54His) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SOS1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- ExAC rs763520126
- TOPMed rs763520126
- gnomAD rs763520126
- Uncertain significance
- SOS1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.52
- CADD 5.28
- PolyPhen-2 0.59
- SIFT 0.08
- ClinVar: Uncertain significance (SOS1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available