M90V (p.Met90Val) variant of RIT1 (GTP-binding protein Rit1)
M90V (p.Met90Val) 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 RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
M90V (p.Met90Val) variant details
- p.Met90Val
- rs1557960039
- ClinGen CA342802812
- NCI-TCGA Cosmic COSV6417
- ClinVar RCV000681030
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.73
- MetaLR 0.37
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS8)
- UniProt: Pathogenic (in NS8)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)