Q79E (p.Gln79Glu) variant of RIT1 (GTP-binding protein Rit1)
Q79E (p.Gln79Glu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Noonan syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q79E (p.Gln79Glu) variant details
- p.Gln79Glu
- rs1673398956
- ClinGen CA342803087
- cosmic curated COSV64171
- ClinVar RCV001261142
- Likely pathogenic
- Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.80
- MetaLR 0.69
- MetaSVM 0.49
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Noonan syndrome 8; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)