V20I (p.Val20Ile) variant of FMR1 (Q06787)
V20I (p.Val20Ile) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- gnomAD X-147921939-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.07
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.20
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.098
- Literature evidence available