V19M (p.Val19Met) variant of SMN1 (Survival motor neuron protein)
V19M (p.Val19Met) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- gnomAD 5-70049740-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.63
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available