P13S (p.Pro13Ser) variant of SMN1 (Survival motor neuron protein)
P13S (p.Pro13Ser) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- Ensembl rs1343835779
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.25
- CADD 9.86
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available