V36I (p.Val36Ile) variant of GNAS (P63092)
V36I (p.Val36Ile) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V36I (p.Val36Ile) variant details
- p.Val36Ile
- TOPMed rs1160685190
- gnomAD rs1160685190
- Uncertain significance
- Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.18
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.1e-05)
- Structural context available