V5E (p.Val5Glu) variant of FMR1 (Q06787)
V5E (p.Val5Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- TOPMed rs1557173996
- gnomAD rs1557173996
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.28
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.394