p.Val12 Pro13insSerGlyGlyGlyGly variant of SMN1 (Survival motor neuron protein)
p.Val12 Pro13insSerGlyGlyGlyGly in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val12 Pro13insSerGlyGlyGlyGly variant details
- gnomAD 5-70049720-T-TCAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 10.90
- Population evidence available
- Structural context available
- Literature evidence available