A77T (p.Ala77Thr) variant of RIT1 (GTP-binding protein Rit1)
A77T (p.Ala77Thr) 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; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
A77T (p.Ala77Thr) variant details
- p.Ala77Thr
- rs869025191
- ClinGen CA353870
- NCI-TCGA Cosmic COSV6417
- cosmic curated COSV64170
- Pathogenic/Likely pathogenic
- Noonan syndrome 8; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- AlphaMissense 0.89
- MetaLR 0.77
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 8; not provided; RASopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)