N12K (p.Asn12Lys) variant of FMR1 (Q06787)
N12K (p.Asn12Lys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N12K (p.Asn12Lys) variant details
- p.Asn12Lys
- gnomAD X-147912215-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.08
- CADD 23.80
- PolyPhen-2 0.14
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.489
- Literature evidence available