P13R (p.Pro13Arg) variant of SMN1 (Survival motor neuron protein)
P13R (p.Pro13Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD 5-70049723-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.29
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available