V19V (p.Val19Val) variant of SMN1 (Survival motor neuron protein)
V19V (p.Val19Val) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V19V (p.Val19Val) variant details
- p.Val19Val
- gnomAD 5-70049742-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 12.30
- Population evidence available
- Structural context available
- Literature evidence available