L30H (p.Leu30His) variant of NCSTN (Nicastrin)
L30H (p.Leu30His) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L30H (p.Leu30His) variant details
- p.Leu30His
- rs1648256475
- gnomAD 1-160343707-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.49
- ESM-1b 0.36
- AlphaMissense 0.13
- CADD 7.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available