F21del (p.Phe21del) variant of SMN1 (Survival motor neuron protein)
F21del (p.Phe21del) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
F21del (p.Phe21del) variant details
- gnomAD 5-70049743-CTGT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available