E4D (p.Glu4Asp) variant of GNA11 (P29992)
E4D (p.Glu4Asp) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 19-3094663-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.25
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 5.6e-06)
- Structural context available
- Literature evidence available