P251L (p.Pro251Leu) variant of SMN1 (Survival motor neuron protein)
P251L (p.Pro251Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
P251L (p.Pro251Leu) variant details
- p.Pro251Leu
- gnomAD 5-70070669-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.76
- CADD 24.50
- PolyPhen-2 0.58
- SIFT 0.08
- Population evidence available
- Literature evidence available