D26N (p.Asp26Asn) variant of FMR1 (Q06787)
D26N (p.Asp26Asn) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- gnomAD X-147921957-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.18
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.254
- Literature evidence available