I17M (p.Ile17Met) variant of SPINK5 (Q9NQ38)
I17M (p.Ile17Met) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I17M (p.Ile17Met) variant details
- p.Ile17Met
- gnomAD 5-148064095-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.99
- CADD 22.50
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available