V51I (p.Val51Ile) variant of NCSTN (Nicastrin)
V51I (p.Val51Ile) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- rs1648259771
- gnomAD 1-160343751-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0841
- REVEL 0.01
- CADD 7.35
- SIFT 0.48
- Most common in the HGDP:ADYGEI population (allele frequency 0.088)
- Structural context available
- Literature evidence available