S14S (p.Ser14Ser) variant of NCSTN (Nicastrin)
S14S (p.Ser14Ser) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S14S (p.Ser14Ser) variant details
- p.Ser14Ser
- rs759140355
- gnomAD 1-160343438-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 15.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available