D130G (p.Asp130Gly) variant of GNAQ (P50148)
D130G (p.Asp130Gly) 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 0.45 / 1. The record also includes population frequency data and structural context.
D130G (p.Asp130Gly) variant details
- p.Asp130Gly
- Ensembl rs1827001688
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.42
- MetaLR 0.59
- MetaSVM -0.09
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available