N35D (p.Asn35Asp) variant of FMR1 (Q06787)
N35D (p.Asn35Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N35D (p.Asn35Asp) variant details
- p.Asn35Asp
- gnomAD X-147921984-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.14
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.37
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.574
- Literature evidence available