L44L (p.Leu44Leu) variant of NCSTN (Nicastrin)
L44L (p.Leu44Leu) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L44L (p.Leu44Leu) variant details
- p.Leu44Leu
- gnomAD 1-160343735-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 4.58
- Population evidence available
- Structural context available
- Literature evidence available