S27P (p.Ser27Pro) variant of FMR1 (Q06787)
S27P (p.Ser27Pro) 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.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD X-147921960-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.593
- Literature evidence available