P43S (p.Pro43Ser) variant of NCSTN (Nicastrin)
P43S (p.Pro43Ser) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- rs1648257894
- gnomAD 1-160343724-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- CADD 7.45
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available