L42L (p.Leu42Leu) variant of SPINK5 (Q9NQ38)
L42L (p.Leu42Leu) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L42L (p.Leu42Leu) variant details
- p.Leu42Leu
- rs1307672024
- gnomAD 5-148070367-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0987
- CADD 2.55
- Population evidence available
- Structural context available
- Literature evidence available