K23N (p.Lys23Asn) variant of RIT1 (GTP-binding protein Rit1)
K23N (p.Lys23Asn) 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; Noonan syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- rs1557962794
- ClinGen CA342776306
- ClinVar RCV000704832
- ClinVar RCV000856799
- Pathogenic
- Noonan syndrome 8; Noonan syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- AlphaMissense 0.99
- MetaLR 0.56
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.33
- ClinVar: Pathogenic (RIT1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)