I82T (p.Ile82Thr) variant of SOS1 (Son of sevenless homolog 1)
I82T (p.Ile82Thr) 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 0.75 / 1. The record also includes population frequency data and structural context.
I82T (p.Ile82Thr) variant details
- p.Ile82Thr
- rs1278714177
- ClinGen CA346373997
- ClinVar RCV003060992
- TOPMed rs1278714177
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available