K21M (p.Lys21Met) variant of FMR1 (Q06787)
K21M (p.Lys21Met) 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.
K21M (p.Lys21Met) variant details
- p.Lys21Met
- gnomAD X-147921943-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.46
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.15
- Literature evidence available