D51Y (p.Asp51Tyr) variant of RIT1 (GTP-binding protein Rit1)
D51Y (p.Asp51Tyr) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- rs869025190
- ClinGen CA353874
- cosmic curated COSV10085
- ClinVar RCV000207344
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.97
- MetaLR 0.53
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)