N106D (p.Asn106Asp) variant of GNAQ (P50148)
N106D (p.Asn106Asp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
N106D (p.Asn106Asp) variant details
- p.Asn106Asp
- TOPMed rs1829007847
- gnomAD rs1829007847
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.67
- MetaLR 0.74
- MetaSVM 0.42
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available