V30I (p.Val30Ile) variant of FMR1 (Q06787)
V30I (p.Val30Ile) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- gnomAD X-147921969-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- CADD 21.80
- PolyPhen-2 0.05
- SIFT 0.34
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.5
- Literature evidence available