S5T (p.Ser5Thr) variant of SMN1 (Survival motor neuron protein)
S5T (p.Ser5Thr) 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.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 5-70049699-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.37
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available