V6M (p.Val6Met) variant of SPINK5 (Q9NQ38)
V6M (p.Val6Met) 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.
V6M (p.Val6Met) variant details
- p.Val6Met
- gnomAD 5-148064060-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.18
- MetaLR 0.28
- MetaSVM -0.77
- CADD 22.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available