E3D (p.Glu3Asp) variant of FMR1 (Q06787)
E3D (p.Glu3Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD rs1557173986
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.12
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.0449