D87H (p.Asp87His) variant of RIT1 (GTP-binding protein Rit1)
D87H (p.Asp87His) 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 and Noonan-related syndrome; Noonan syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
D87H (p.Asp87His) variant details
- p.Asp87His
- rs886041414
- ClinGen CA10602741
- ClinVar RCV000278934
- ClinVar RCV001813441
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.44
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Noonan syndrome 8;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)