L16L (p.Leu16Leu) variant of SPINK5 (Q9NQ38)
L16L (p.Leu16Leu) in SPINK5 (Q9NQ38) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L16L (p.Leu16Leu) variant details
- p.Leu16Leu
- rs374054110
- gnomAD 5-148064092-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 8.43
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available