K17K (p.Lys17Lys) variant of FMR1 (Q06787)
K17K (p.Lys17Lys) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K17K (p.Lys17Lys) variant details
- p.Lys17Lys
- gnomAD X-147912230-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 26.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score 0.0113
- Literature evidence available