A77S (p.Ala77Ser) variant of RIT1 (GTP-binding protein Rit1)
A77S (p.Ala77Ser) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
A77S (p.Ala77Ser) variant details
- p.Ala77Ser
- rs869025191
- ClinGen CA342803125
- NCI-TCGA Cosmic COSV6417
- Pathogenic
- Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.81
- AlphaMissense 0.89
- MetaLR 0.77
- MetaSVM 0.72
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Noonan syndrome 8; not provided)
- EBI: Pathogenic
- UniProt: 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)