K21E (p.Lys21Glu) variant of FMR1 (Q06787)
K21E (p.Lys21Glu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- gnomAD X-147921942-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.42
- CADD 25.70
- PolyPhen-2 0.49
- SIFT 0.01
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.15
- Literature evidence available