N34K (p.Asn34Lys) variant of FMR1 (Q06787)
N34K (p.Asn34Lys) in FMR1 (Q06787) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- ExAC rs782350674
- TOPMed rs782350674
- gnomAD rs782350674
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.24
- CADD 25.60
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.952