L47Q (p.Leu47Gln) variant of RRAD (GTP-binding protein RAD)
L47Q (p.Leu47Gln) in RRAD (GTP-binding protein RAD) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L47Q (p.Leu47Gln) variant details
- p.Leu47Gln
- ExAC rs569186578
- TOPMed rs569186578
- gnomAD rs569186578
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 26.50
- PolyPhen-2 0.89
- SIFT 0.13
- Most common in the Ashkenazi Jewish population (allele frequency 0.004)
- Structural context available