A86T (p.Ala86Thr) variant of SOS1 (Son of sevenless homolog 1)
A86T (p.Ala86Thr) 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 record also includes structural context.
A86T (p.Ala86Thr) variant details
- p.Ala86Thr
- rs2465361612
- ClinGen CA346373971
- ClinVar RCV003080280
- cosmic curated COSV10121
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available