G26A (p.Gly26Ala) variant of SMN1 (Survival motor neuron protein)
G26A (p.Gly26Ala) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G26A (p.Gly26Ala) variant details
- p.Gly26Ala
- gnomAD 5-70049762-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.78
- CADD 25.60
- PolyPhen-2 0.95
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available