A26T (p.Ala26Thr) variant of SOS1 (Son of sevenless homolog 1)
A26T (p.Ala26Thr) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- TOPMed rs1303622703
- gnomAD rs1303622703
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.43
- CADD 24.20
- PolyPhen-2 0.26
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available