S5I (p.Ser5Ile) variant of SMN1 (Survival motor neuron protein)
S5I (p.Ser5Ile) in SMN1 (Survival motor neuron protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S5I (p.Ser5Ile) variant details
- p.Ser5Ile
- gnomAD 5-70049699-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available