F82C (p.Phe82Cys) variant of RIT1 (GTP-binding protein Rit1)
F82C (p.Phe82Cys) 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 RIT1-related disorder; Noonan syndrome 8; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
F82C (p.Phe82Cys) variant details
- p.Phe82Cys
- rs868208063
- ClinGen CA16042308
- NCI-TCGA Cosmic COSV6417
- cosmic curated COSV64170
- Pathogenic
- RIT1-related disorder; Noonan syndrome 8; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 1.00
- MetaLR 0.72
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.40
- ClinVar: Pathogenic (RIT1-related disorder; Noonan syndrome 8; RASopathy)
- 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)