S10T (p.Ser10Thr) variant of RIT1 (GTP-binding protein Rit1)
S10T (p.Ser10Thr) 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 0.33 / 1. The record also includes published literature and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- rs1673577896
- ClinGen CA342776485
- ClinVar RCV003847127
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.12
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.17
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)