D22N (p.Asp22Asn) variant of FMR1 (Q06787)
D22N (p.Asp22Asn) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D22N (p.Asp22Asn) variant details
- p.Asp22Asn
- gnomAD X-147921945-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.43
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.14
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.0835
- Literature evidence available