R45G (p.Arg45Gly) variant of RIT1 (GTP-binding protein Rit1)
R45G (p.Arg45Gly) 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 not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R45G (p.Arg45Gly) variant details
- p.Arg45Gly
- rs1316625491
- ClinGen CA342776012
- ClinVar RCV002585376
- ClinVar RCV005622202
- Uncertain significance
- not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.49
- SIFT 0.34
- ClinVar: Uncertain significance (not provided; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)