N35K (p.Asn35Lys) variant of FMR1 (Q06787)
N35K (p.Asn35Lys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
N35K (p.Asn35Lys) variant details
- p.Asn35Lys
- gnomAD X-147925540-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.13
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.574
- Literature evidence available