P251H (p.Pro251His) variant of SMN1 (Survival motor neuron protein)
P251H (p.Pro251His) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and published literature.
P251H (p.Pro251His) variant details
- p.Pro251His
- gnomAD 5-70071181-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 3.94
- Population evidence available
- Literature evidence available