S43T (p.Ser43Thr) variant of RIT1 (GTP-binding protein Rit1)
S43T (p.Ser43Thr) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- rs1400808611
- ClinGen CA342776030
- ClinVar RCV003740900
- TOPMed rs1400808611
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.23
- CADD 23.90
- PolyPhen-2 0.10
- SIFT 0.19
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)