K17R (p.Lys17Arg) variant of FMR1 (Q06787)
K17R (p.Lys17Arg) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K17R (p.Lys17Arg) variant details
- p.Lys17Arg
- gnomAD X-147912229-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.17
- CADD 31.00
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0113
- Literature evidence available