N12N (p.Asn12Asn) variant of FMR1 (Q06787)
N12N (p.Asn12Asn) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N12N (p.Asn12Asn) variant details
- p.Asn12Asn
- rs371928026
- gnomAD X-147912215-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 14.80
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.489
- Literature evidence available