T38A (p.Thr38Ala) variant of RIT1 (GTP-binding protein Rit1)
T38A (p.Thr38Ala) 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 not specified; not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- rs1557962699
- ClinGen CA342776100
- NCI-TCGA Cosmic COSV6416
- cosmic curated COSV64167
- Conflicting interpretations
- not specified; not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.86
- MetaLR 0.39
- MetaSVM -0.15
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.42
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)