P49H (p.Pro49His) variant of NCSTN (Nicastrin)
P49H (p.Pro49His) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P49H (p.Pro49His) variant details
- p.Pro49His
- gnomAD 1-160343770-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.05
- CADD 8.13
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available