Q37K (p.Gln37Lys) variant of FMR1 (Q06787)
Q37K (p.Gln37Lys) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q37K (p.Gln37Lys) variant details
- p.Gln37Lys
- gnomAD X-147925544-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.05
- SIFT 0.03
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.822
- Literature evidence available