I42T (p.Ile42Thr) variant of RIT1 (GTP-binding protein Rit1)
I42T (p.Ile42Thr) 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 Cardiovascular phenotype; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
I42T (p.Ile42Thr) variant details
- p.Ile42Thr
- rs765636979
- ClinGen CA1151881
- ClinVar RCV003742312
- ClinVar RCV004371872
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.68
- CADD 25.70
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; 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)