A77P (p.Ala77Pro) variant of RIT1 (GTP-binding protein Rit1)
A77P (p.Ala77Pro) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome 8; not provided; Noonan syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A77P (p.Ala77Pro) variant details
- p.Ala77Pro
- rs869025191
- ClinGen CA10576360
- cosmic curated COSV64171
- ClinVar RCV000218943
- Pathogenic/Likely pathogenic
- Noonan syndrome 8; not provided; Noonan syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.98
- AlphaMissense 0.89
- MetaLR 0.77
- MetaSVM 0.72
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 8; not provided; Noonan syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)