L53L (p.Leu53Leu) variant of NCSTN (Nicastrin)
L53L (p.Leu53Leu) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L53L (p.Leu53Leu) variant details
- p.Leu53Leu
- rs145955020
- gnomAD 1-160344795-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available