D51E (p.Asp51Glu) variant of RIT1 (GTP-binding protein Rit1)
D51E (p.Asp51Glu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- rs1571999275
- cosmic curated COSV10611
- NCI-TCGA TCGA novel
- ClinGen CA342775966
- Uncertain significance
- Noonan syndrome 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.99
- MetaLR 0.28
- MetaSVM -0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.38
- ClinVar: Uncertain significance (Noonan syndrome 8; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)