P49V (p.Pro49Val) variant of NCSTN (Nicastrin)
P49V (p.Pro49Val) in NCSTN (Nicastrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P49V (p.Pro49Val) variant details
- p.Pro49Val
- gnomAD 1-160343777-ACCCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.81
- Population evidence available
- Structural context available
- Literature evidence available