P12Q (p.Pro12Gln) variant of NCSTN (Nicastrin)
P12Q (p.Pro12Gln) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P12Q (p.Pro12Gln) variant details
- p.Pro12Gln
- gnomAD 1-160343431-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.95
- PolyPhen-2 0.13
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available