K21R (p.Lys21Arg) variant of FMR1 (Q06787)
K21R (p.Lys21Arg) in FMR1 (Q06787) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- gnomAD X-147921940-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 23.90
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.15
- Literature evidence available