T38S (p.Thr38Ser) variant of RIT1 (GTP-binding protein Rit1)
T38S (p.Thr38Ser) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Noonan syndrome 8; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
T38S (p.Thr38Ser) variant details
- p.Thr38Ser
- rs2102590960
- ClinGen CA342776094
- ClinVar RCV001362346
- ClinVar RCV001732138
- Conflicting interpretations
- Noonan syndrome 8; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.76
- AlphaMissense 0.93
- MetaLR 0.45
- MetaSVM -0.04
- CADD 24.30
- PolyPhen-2 0.98
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 8; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)