P13P (p.Pro13Pro) variant of SMN1 (Survival motor neuron protein)
P13P (p.Pro13Pro) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- gnomAD 5-70049724-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available