T266A (p.Thr266Ala) variant of SOS1 (Son of sevenless homolog 1)
T266A (p.Thr266Ala) 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 RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
T266A (p.Thr266Ala) variant details
- p.Thr266Ala
- rs2124596942
- ClinGen CA346367691
- ClinVar RCV002726660
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.58
- PolyPhen-2 0.11
- SIFT 0.01
- EVE 0.61
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance (in NS4)
- UniProt: Uncertain significance (in NS4)
- Structural context available