P251S (p.Pro251Ser) variant of SMN1 (Survival motor neuron protein)
P251S (p.Pro251Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
P251S (p.Pro251Ser) variant details
- p.Pro251Ser
- gnomAD 5-70071180-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 13.10
- Population evidence available
- Literature evidence available