R23C (p.Arg23Cys) variant of SMN1 (Survival motor neuron protein)
R23C (p.Arg23Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- Ensembl rs1774435430
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available