F32S (p.Phe32Ser) variant of FMR1 (Q06787)
F32S (p.Phe32Ser) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F32S (p.Phe32Ser) variant details
- p.Phe32Ser
- gnomAD X-147921976-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.68
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.484
- Literature evidence available