L9L (p.Leu9Leu) variant of SPINK5 (Q9NQ38)
L9L (p.Leu9Leu) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L9L (p.Leu9Leu) variant details
- p.Leu9Leu
- gnomAD 5-148064071-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 7.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available