T38I (p.Thr38Ile) variant of RIT1 (GTP-binding protein Rit1)
T38I (p.Thr38Ile) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
T38I (p.Thr38Ile) variant details
- p.Thr38Ile
- rs2102590960
- ClinGen CA342776096
- ClinVar RCV002451793
- Uncertain significance
- Cardiovascular phenotype
- 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: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available