Y89H (p.Tyr89His) variant of RIT1 (GTP-binding protein Rit1)
Y89H (p.Tyr89His) 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 and Noonan-related syndrome; Noonan syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y89H (p.Tyr89His) variant details
- p.Tyr89His
- rs869025197
- ClinGen CA353873
- ClinVar RCV000207342
- ClinVar RCV000486847
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- MetaLR 0.72
- MetaSVM 0.61
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; 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 9e-07)
- 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)