S11P (p.Ser11Pro) variant of FMR1 (Q06787)
S11P (p.Ser11Pro) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- gnomAD X-147912210-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.22
- CADD 24.30
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.373
- Literature evidence available