K23Q (p.Lys23Gln) variant of RIT1 (GTP-binding protein Rit1)
K23Q (p.Lys23Gln) 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 Cardiovascular phenotype; Hypertelorism; Short stature. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K23Q (p.Lys23Gln) variant details
- p.Lys23Gln
- rs869312687
- ClinGen CA353413
- ClinVar RCV000209835
- ClinVar RCV000521893
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Hypertelorism; Short stature
- 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/Likely pathogenic (Cardiovascular phenotype; Hypertelorism; Short stature)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)