L30L (p.Leu30Leu) variant of NCSTN (Nicastrin)
L30L (p.Leu30Leu) in NCSTN (Nicastrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs906188312
- gnomAD 1-160343708-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.24
- CADD 7.38
- Population evidence available
- Structural context available
- Literature evidence available