T37A (p.Thr37Ala) variant of SOS1 (Son of sevenless homolog 1)
T37A (p.Thr37Ala) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T37A (p.Thr37Ala) variant details
- p.Thr37Ala
- rs150565592
- ClinGen CA136074
- ClinVar RCV000038509
- ClinVar RCV000159147
- Likely benign
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.23
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (RASopathy)
- EBI: Benign (in a patient with Noonan syndrome)
- UniProt: Benign (in a patient with Noonan syndrome)
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available
- Cited in: SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and… (PMID 21387466)
- Cited in: Noonan Syndrome. (PMID 20301303)