T37I (p.Thr37Ile) variant of SOS1 (Son of sevenless homolog 1)
T37I (p.Thr37Ile) 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 not specified; RASopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- gnomAD rs1295255931
- Uncertain significance
- not specified; RASopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.36
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.14
- ClinVar: Uncertain significance (not specified; RASopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in a patient with Noonan syndrome)
- UniProt: Uncertain significance (in a patient with Noonan syndrome)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available