F21F (p.Phe21Phe) variant of SMN1 (Survival motor neuron protein)
F21F (p.Phe21Phe) in SMN1 (Survival motor neuron protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
F21F (p.Phe21Phe) variant details
- p.Phe21Phe
- rs1203191487
- gnomAD 5-70049748-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.412
- CADD 15.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available