I94T (p.Ile94Thr) variant of SOS1 (Son of sevenless homolog 1)
I94T (p.Ile94Thr) 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; Noonan syndrome 4; Fibromatosis, gingival, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
I94T (p.Ile94Thr) variant details
- p.Ile94Thr
- rs397517161
- ClinGen CA136114
- ClinVar RCV000038539
- ClinVar RCV002467547
- Uncertain significance
- not specified; Noonan syndrome 4; Fibromatosis, gingival, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.76
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Noonan syndrome 4; Fibromatosis, gingival, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)