T5S (p.Thr5Ser) variant of RIT1 (GTP-binding protein Rit1)
T5S (p.Thr5Ser) 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 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
T5S (p.Thr5Ser) variant details
- p.Thr5Ser
- rs771768320
- ClinGen CA1151911
- ClinVar RCV000820043
- ClinVar RCV002390686
- Uncertain significance
- Cardiovascular phenotype; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.0577
- REVEL 0.05
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.83
- ClinVar: Uncertain significance (Cardiovascular phenotype; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)