N35N (p.Asn35Asn) variant of FMR1 (Q06787)
N35N (p.Asn35Asn) in FMR1 (Q06787) is a protein-truncating 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, published literature, and structural context.
N35N (p.Asn35Asn) variant details
- p.Asn35Asn
- gnomAD X-147925540-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 14.20
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.574
- Literature evidence available