S3A (p.Ser3Ala) variant of RIT1 (GTP-binding protein Rit1)
S3A (p.Ser3Ala) 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 0.32 / 1. The record also includes published literature and structural context.
S3A (p.Ser3Ala) variant details
- p.Ser3Ala
- rs2102591265
- ClinGen CA342776577
- ClinVar RCV002034404
- Ensembl rs2102591265
- Uncertain significance
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.00
- SIFT 0.70
- MutPred 0.11
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)