I28V (p.Ile28Val) variant of FMR1 (Q06787)
I28V (p.Ile28Val) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- Ensembl rs2043190030
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.09
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.974