T38N (p.Thr38Asn) variant of RIT1 (GTP-binding protein Rit1)
T38N (p.Thr38Asn) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
T38N (p.Thr38Asn) variant details
- p.Thr38Asn
- rs2102590960
- ClinGen CA342776093
- ClinVar RCV001261139
- ClinVar RCV002541575
- Conflicting interpretations
- Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.93
- MetaLR 0.45
- MetaSVM -0.04
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.48
- ClinVar: Conflicting classifications of pathogenicity (Noonan syndrome 8)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)