S4N (p.Ser4Asn) variant of SMN1 (Survival motor neuron protein)
S4N (p.Ser4Asn) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- gnomAD 5-70049696-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.36
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available