S15S (p.Ser15Ser) variant of NF1 (Neurofibromin)
S15S (p.Ser15Ser) in NF1 (Neurofibromin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs2143145432
- gnomAD 17-31095354-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 20.50
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available