V25F (p.Val25Phe) variant of NCSTN (Nicastrin)
V25F (p.Val25Phe) in NCSTN (Nicastrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V25F (p.Val25Phe) variant details
- p.Val25Phe
- gnomAD 1-160343469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available