S22P (p.Ser22Pro) variant of NCSTN (Nicastrin)
S22P (p.Ser22Pro) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- TOPMed rs1648216449
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.10
- PolyPhen-2 0.13
- SIFT 0.22
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available