P251T (p.Pro251Thr) variant of SMN1 (Survival motor neuron protein)
P251T (p.Pro251Thr) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
P251T (p.Pro251Thr) variant details
- p.Pro251Thr
- gnomAD 5-70071180-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 3.46
- Population evidence available
- Literature evidence available