G24D (p.Gly24Asp) variant of SMN1 (Survival motor neuron protein)
G24D (p.Gly24Asp) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 5-70049756-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.65
- CADD 23.90
- PolyPhen-2 0.24
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available