D43E (p.Asp43Glu) variant of RRAD (GTP-binding protein RAD)
D43E (p.Asp43Glu) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- gnomAD rs1250407135
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available