P245S (p.Pro245Ser) variant of SMN1 (Survival motor neuron protein)
P245S (p.Pro245Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and published literature.
P245S (p.Pro245Ser) variant details
- p.Pro245Ser
- gnomAD 5-70070650-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.85
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Literature evidence available