M90I (p.Met90Ile) variant of RIT1 (GTP-binding protein Rit1)
M90I (p.Met90Ile) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M90I (p.Met90Ile) variant details
- p.Met90Ile
- rs483352822
- ClinGen CA1151814
- NCI-TCGA Cosmic COSV6417
- Pathogenic
- Inborn genetic diseases; not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.97
- MetaLR 0.32
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.08
- EVE 0.20
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; Noonan syndrome 8)
- EBI: Pathogenic (in NS8)
- UniProt: Pathogenic (in NS8)
- Population evidence available
- Structural context available
- Cited in: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID 23791108)
- Cited in: Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of… (PMID 24939608)