S35T (p.Ser35Thr) variant of RIT1 (GTP-binding protein Rit1)
S35T (p.Ser35Thr) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome; RASopathy; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S35T (p.Ser35Thr) variant details
- p.Ser35Thr
- rs869025189
- ClinGen CA353872
- ClinVar RCV000207341
- ClinVar RCV000255076
- Pathogenic
- Noonan syndrome; RASopathy; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.59
- CADD 24.00
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Pathogenic (Noonan syndrome; RASopathy; Noonan syndrome 8)
- EBI: Pathogenic (found in patients with features of Noonan syndrome)
- UniProt: Pathogenic (found in patients with features of Noonan syndrome)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID 23791108)
- Cited in: Noonan Syndrome. (PMID 20301303)