Q18H (p.Gln18His) variant of SPINK5 (Q9NQ38)
Q18H (p.Gln18His) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- gnomAD 5-148064098-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.11
- MetaLR 0.30
- MetaSVM -0.71
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available