D32Y (p.Asp32Tyr) variant of GNA11 (P29992)
D32Y (p.Asp32Tyr) in GNA11 (P29992) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
D32Y (p.Asp32Tyr) variant details
- p.Asp32Tyr
- TOPMed rs1913318982
- gnomAD rs1913318982
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available