P12S (p.Pro12Ser) variant of NCSTN (Nicastrin)
P12S (p.Pro12Ser) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- gnomAD 1-160343430-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available
- Literature evidence available