S22F (p.Ser22Phe) variant of NCSTN (Nicastrin)
S22F (p.Ser22Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- gnomAD 1-160343461-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available