V25A (p.Val25Ala) variant of NCSTN (Nicastrin)
V25A (p.Val25Ala) in NCSTN (Nicastrin) is a missense 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.
V25A (p.Val25Ala) variant details
- p.Val25Ala
- gnomAD 1-160343470-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Literature evidence available