S8T (p.Ser8Thr) variant of SMN1 (Survival motor neuron protein)
S8T (p.Ser8Thr) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S8T (p.Ser8Thr) variant details
- p.Ser8Thr
- gnomAD 5-70049708-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.20
- CADD 4.44
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available