D258N (p.Asp258Asn) variant of SMN1 (Survival motor neuron protein)
D258N (p.Asp258Asn) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D258N (p.Asp258Asn) variant details
- p.Asp258Asn
- gnomAD 5-70071306-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- CADD 4.26
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available