K23E (p.Lys23Glu) variant of RIT1 (GTP-binding protein Rit1)
K23E (p.Lys23Glu) 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 Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- rs869312687
- ClinGen CA342776314
- NCI-TCGA Cosmic COSV6416
- cosmic curated COSV64166
- Pathogenic
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.99
- MetaLR 0.73
- MetaSVM 0.67
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic (Noonan syndrome 8)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)