T9I (p.Thr9Ile) variant of GNAS (P63092)
T9I (p.Thr9Ile) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- rs901936182
- ClinGen CA316320584
- ClinVar RCV003887214
- TOPMed rs901936182
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- CADD 19.90
- PolyPhen-2 0.20
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available