V20E (p.Val20Glu) variant of FMR1 (Q06787)
V20E (p.Val20Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V20E (p.Val20Glu) variant details
- p.Val20Glu
- gnomAD X-147921940-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.68
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.098
- Literature evidence available