T37I (p.Thr37Ile) variant of SOS2 (Son of sevenless homolog 2)
T37I (p.Thr37Ile) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 9; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T37I (p.Thr37Ile) variant details
- p.Thr37Ile
- rs370550495
- ClinGen CA7177608
- ClinVar RCV002428922
- ClinVar RCV003102110
- Conflicting interpretations
- Noonan syndrome 9; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.29
- MetaLR 0.44
- MetaSVM -0.59
- CADD 9.83
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 9; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)