I99M (p.Ile99Met) variant of GNAQ (P50148)
I99M (p.Ile99Met) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I99M (p.Ile99Met) variant details
- p.Ile99Met
- gnomAD rs1416428102
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.83
- MetaLR 0.81
- MetaSVM 0.63
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available