R45L (p.Arg45Leu) variant of RIT1 (GTP-binding protein Rit1)
R45L (p.Arg45Leu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
R45L (p.Arg45Leu) variant details
- p.Arg45Leu
- rs1673569021
- ClinGen CA342776008
- ClinVar RCV001322286
- Ensembl rs1673569021
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.67
- MetaLR 0.27
- MetaSVM -0.60
- PolyPhen-2 0.88
- SIFT 0.54
- EVE 0.19
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)