Y47H (p.Tyr47His) variant of SOS1 (Son of sevenless homolog 1)
Y47H (p.Tyr47His) in SOS1 (Son of sevenless homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- TOPMed rs1418446263
- gnomAD rs1418446263
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.70
- CADD 22.70
- PolyPhen-2 0.39
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available