P43Q (p.Pro43Gln) variant of NCSTN (Nicastrin)
P43Q (p.Pro43Gln) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- gnomAD 1-160343737-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.088
- REVEL 0.02
- CADD 6.73
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available