V12V (p.Val12Val) variant of SMN1 (Survival motor neuron protein)
V12V (p.Val12Val) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs1321517494
- gnomAD 5-70049721-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.73
- Population evidence available
- Structural context available
- Literature evidence available