P251P (p.Pro251Pro) variant of SMN1 (Survival motor neuron protein)
P251P (p.Pro251Pro) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and published literature.
P251P (p.Pro251Pro) variant details
- p.Pro251Pro
- rs1219359069
- gnomAD 5-70071329-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0844
- CADD 0.53
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Literature evidence available