S22Y (p.Ser22Tyr) variant of NCSTN (Nicastrin)
S22Y (p.Ser22Tyr) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S22Y (p.Ser22Tyr) variant details
- p.Ser22Tyr
- gnomAD 1-160343461-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available