Q18E (p.Gln18Glu) variant of SPINK5 (Q9NQ38)
Q18E (p.Gln18Glu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q18E (p.Gln18Glu) variant details
- p.Gln18Glu
- gnomAD 5-148064096-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- MetaLR 0.22
- MetaSVM -0.86
- CADD 24.00
- PolyPhen-2 0.95
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available