N22D (p.Asn22Asp) variant of GNAQ (P50148)
N22D (p.Asn22Asp) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- Ensembl rs2118632334
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.45
- MetaLR 0.61
- MetaSVM 0.04
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.02
- Population evidence available
- Structural context available