N22D (p.Asn22Asp) variant of GNA11 (P29992)
N22D (p.Asn22Asp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
N22D (p.Asn22Asp) variant details
- p.Asn22Asp
- gnomAD 19-3094715-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.65
- CADD 24.30
- PolyPhen-2 0.79
- SIFT 0.37
- Population evidence available
- Structural context available
- Literature evidence available