S8R (p.Ser8Arg) variant of SMN1 (Survival motor neuron protein)
S8R (p.Ser8Arg) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S8R (p.Ser8Arg) variant details
- p.Ser8Arg
- Ensembl rs1221447932
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.18
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available