V6L (p.Val6Leu) variant of SPINK5 (Q9NQ38)
V6L (p.Val6Leu) in SPINK5 (Q9NQ38) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- gnomAD 5-148064060-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.12
- MetaLR 0.31
- MetaSVM -0.71
- CADD 21.60
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available