P13Q (p.Pro13Gln) variant of SMN1 (Survival motor neuron protein)
P13Q (p.Pro13Gln) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- gnomAD 5-70049723-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.30
- CADD 17.70
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available