F82I (p.Phe82Ile) variant of RIT1 (GTP-binding protein Rit1)
F82I (p.Phe82Ile) 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 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
F82I (p.Phe82Ile) variant details
- p.Phe82Ile
- rs869025194
- ClinGen CA353868
- ClinVar RCV000207338
- ClinVar RCV000226825
- Pathogenic
- Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.41
- ClinVar: Pathogenic (Noonan syndrome 8; not provided)
- EBI: Pathogenic (found in patients with features of Noonan syndrome)
- UniProt: Pathogenic (found in patients with features of Noonan syndrome)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)