P251A (p.Pro251Ala) variant of SMN1 (Survival motor neuron protein)
P251A (p.Pro251Ala) 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.
P251A (p.Pro251Ala) variant details
- p.Pro251Ala
- rs1774582919
- gnomAD 5-70071180-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 3.48
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Literature evidence available