L30V (p.Leu30Val) variant of NCSTN (Nicastrin)
L30V (p.Leu30Val) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- gnomAD 1-160343706-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 8.71
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available