P248A (p.Pro248Ala) variant of SMN1 (Survival motor neuron protein)
P248A (p.Pro248Ala) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
P248A (p.Pro248Ala) variant details
- p.Pro248Ala
- gnomAD 5-70070659-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.83
- CADD 23.50
- PolyPhen-2 0.95
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available