I83V (p.Ile83Val) variant of GNAQ (P50148)
I83V (p.Ile83Val) in GNAQ (P50148) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I83V (p.Ile83Val) variant details
- p.Ile83Val
- TOPMed rs1647480962
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.41
- MetaLR 0.57
- MetaSVM -0.12
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available