N34D (p.Asn34Asp) variant of FMR1 (Q06787)
N34D (p.Asn34Asp) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- gnomAD X-147921981-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.05
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.952
- Literature evidence available