Q37R (p.Gln37Arg) variant of FMR1 (Q06787)
Q37R (p.Gln37Arg) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q37R (p.Gln37Arg) variant details
- p.Gln37Arg
- gnomAD X-147925545-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.42
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.02
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.822
- Literature evidence available