G13E (p.Gly13Glu) variant of FMR1 (Q06787)
G13E (p.Gly13Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs1206971095
- gnomAD X-147912741-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 18.60
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.188
- Literature evidence available