P244L (p.Pro244Leu) variant of SMN1 (Survival motor neuron protein)
P244L (p.Pro244Leu) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P244L (p.Pro244Leu) variant details
- p.Pro244Leu
- gnomAD 5-70070648-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.83
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available