D252G (p.Asp252Gly) variant of SMN1 (Survival motor neuron protein)
D252G (p.Asp252Gly) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
D252G (p.Asp252Gly) variant details
- p.Asp252Gly
- gnomAD 5-70070672-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.92
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available