G211C (p.Gly211Cys) variant of SMN1 (Survival motor neuron protein)
G211C (p.Gly211Cys) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and published literature.
G211C (p.Gly211Cys) variant details
- p.Gly211Cys
- gnomAD 5-70069238-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.75
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available